List of conditions with craniosynostosis explained

Craniosynostosis, a condition in which the sutures of the head (joints between the bones of the skull) prematurely fuse and subsequently alter the shape of the head, is seen in multiple conditions, as listed below. The level of involvement varies by condition and can range from minor, single-suture craniosynostosis to major, multisutural craniosynostosis.

0-9

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
3MC syndromeSpectrum of 4 syndromes: Carnevale, Mingarelli, Malpuech, and Michels.[1] [2]
8q22.1 microdeletion syndromeMicrocephaly[3]
15q overgrowth syndromeMacrocephaly; not seen in all cases.[4]

A

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
AcrocephalopolydactylyOxycephaly[5]
Acrocephalosyndactyly type ICoronal, sagittalAcrobrachycephaly, brachycephaly, brachyturricephalyCharacterized by syndactyly of fingers and toes; usually known as Apert syndrome.[6]
Acrocephalosyndactyly type IVOxycephalyUsually known as Goodman syndrome; now classified as Carpenter syndrome variant.[7] [8]
Acrocephalopolysyndactyly type IIIUsually known as Sakati-Nyhan-Tisdale syndrome.[9]
Acrocraniofacial dysostosisOxycephaly[10]
Adducted thumbMicrocephaly[11]
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndromeMicrocephaly[12]
Aneurysm-osteoarthritis syndromeUsually classified as LDS type 1C.[13]
Antley-Bixler syndromeCoronalBrachycephaly, cloverleaf skullMacrocephaly or microcephaly[14] [15]
Aprosencephaly cerebellar dysgenesis[16]
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development (ACCIID)Plagiocephaly, trigonocephaly[17]
Aurocephalosyndactyly[18]
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromePlagiocephalyMicrocephaly[19]
Autosomal recessive osteopetrosis (TCIRG1)Macrocephaly[20]

B

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
Baller-Gerold syndromeSagittal, coronalBrachyturricephaly[21]
Beare-Stevenson cutis gyrata syndromeCloverleaf skull[22]
Bent bone dysplasia syndromeCoronal[23]
Bonnemann-Meinecke-Reich syndromeDescribed in 2 sets of siblings in 2 different families; last reported 1991.[24]
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasiaMicrocephaly[25]

C

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
Cardiocranial syndrome, Pfeiffer typeSagittal[26]
Carpenter syndromeCoronal, sagittalBrachycephaly, oxycephaly, trigonocephalyAlso classified as Acrocephalopolysyndactyly type II.[27] [28] [29]
CEBALID syndromeBrachycephaly, dolichocephaly, plagiocephaly, platystencephaly, turricephaly[30]
Cerebrooculonasal syndromeBrachycephalyMacrocephaly[31]
Char syndrome[32]
Childhood hypophosphatasiaDolichocephaly[33]
Chromosome 5p13 duplication syndromeBrachycephaly, turricephalyMacrocephaly[34]
Cloverleaf skull syndromeCloverleaf skullUsually considered to be an isolated form.[35]
Cloverleaf skull-asphyxiating thoracic dysplasia syndromeCloverleaf skullLast case reported in 1987.[36]
Cloverleaf skull-multiple congenital anomalies syndromeCloverleaf skullSeen in 3 siblings from 1 family.[37]
Contractures, pterygia, and spondylocarpotarsal fusion syndromeMicrocephaly[38]
Cole-Carpenter syndromeCoronalTurricephalyMacrocephaly[39] [40] [41]
Cranioectodermal dysplasiaMetopic, sagittalCloverleaf skull, dolichocephaly/scaphocephaly, plagiocephalyMacrocephaly[42] [43] [44] [45] [46]
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual developmentBrachycephalyMacrocephaly or microcephaly[47]
Craniofacial dyssynostosisLambdoid (bilateral), sagittal (posterior)Brachycephaly, brachyturricephaly[48]
Craniofacial dysplasia - osteopenia syndromeBrachycephaly[49]
Craniofrontonasal dysplasia-Poland anomaly syndromeLess than 10 known cases described.[50]
Craniofrontonasal syndromeCoronalBrachycephaly[51]
CraniorhinyOxycephaly/turricephaly[52]
Craniosynostosis, Boston type (MSX2)CoronalBrachycephaly, brachyturricephaly, trigonocephaly, turricephalyUsually considered nonsyndromic.[53]
Craniosynostosis (ALX4)Susceptible cause; usually considered nonsyndromic.[54]
Craniosynstosis (ZIC1)Brachycephaly, plagiocephaly, turricephalyCan also feature delayed suture closure, microcephaly; usually considered nonsyndromic.[55]
Craniosynostosis (SMAD6)Usually considered nonsyndromic.[56]
Craniosynostosis (TWIST1)Coronal (right unicoronal), sagittalDolichocephaly/scaphocephaly, oxycephaly/turricephalyUsually considered nonsyndromic.[57]
Craniosynostosis (TCF12)Coronal, sagittalUsually considered nonsyndromic.[58]
Craniosynostosis (ERF)Coronal, metopic, pansynostosis, sagittalMacrocephaly; usually considered nonsyndromic.[59]
Craniosynostosis and dental anomaliesCoronal, metopic, sagittalBrachycephaly, dolichocephaly/scaphocephaly, oxycephaly/turricephaly, trigonocephaly[60]
Craniosynostosis with anomalies of the cranial base and digits[61]
Craniosynostosis with ocular abnormalities and hallucal defects[62]
Craniosynostosis, Adelaide type[63]
Craniosynostosis, Philadelphia typeSagittalDolichocephalyVariable sagittal craniosynostosis penetrance.[64]
Craniosynostosis-anal anomalies-porokeratosis syndromeCoronal, sagittalBrachycephaly[65]
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndromeSagittalDolichocephaly[66]
Craniosynostosis-fibular aplasia syndrome[67]
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndromeSagittalScaphocephaly[68]
Craniosynostosis-intellectual disability syndrome of 51N and Gettig[69]
Craniosynostosis-intellectual disability-clefting syndromeMicrocephaly[70]
Craniosynostosis-intracranial calcifications syndromeMicrocephaly[71]
Craniotelencephalic dysplasia[72]
Crouzon syndromeCoronal, sagittalBrachycephalyAlso classified as Acrocephalosyndactyly type II.[73]
Crouzon syndrome-acanthosis nigricans syndromeBrachycephaly[74]
Curry-Jones syndromeCoronal (unilateral, sometimes bilateral)[75]
Cutis laxa, autosomal recessive, type 2E[76]

D

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
DEGCAGS syndromePlagiocephalyMicrocephaly[77]
Developmental delay with short stature, dysmorphic facial features, and sparse hairScaphocephaly, trigonocephaly[78]
Distal 10q deletion syndromeDolichocephalyMicrocephaly[79]
Distal monosomy 7p[80]
Distal trisomy 1p36MetopicMicrocephaly[81]
Distal trisomy 5qMicrocephaly[82]
Distal symphalangism[83]

E

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
Ehlers-Danlos syndrome, spondylodysplastic typeMacrocephaly[84]

F

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
Familial scaphocephaly syndrome, McGillivray typeDolichocephaly[85]
Fontaine progeroid syndromeCoronalBrachycephaly, turricephalyMicrocephaly[86]
Frontometaphyseal dysplasiaPart of oto-palato-digital syndrome spectrum[87]
Frontonasal dysplasia with alopecia and genital anomalyBrachycephaly, plagiocephaly (anterior)Microcephaly[88]

G

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
Glass-Chapman-Hockley syndromeCoronalOnly seen in a single family.[89]
Gomez Lopez Hernandez syndromeBrachycephaly, turricephaly[90]
Greig cephalopolysyndactyly syndromeMetopicDolichocephaly/scaphocephaly, trigonocephalyDelayed suture closure, macrocephaly[91]

H

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
Hartsfield-Bixler-Demyer syndromeMicrocephaly[92]
Holoprosencephaly-craniosynostosis syndromeCoronal[93]
Hunter-McAlpine craniosynostosis[94]
Hyper-IgE recurrent infection syndromeScaphocephaly[95] [96]
Hypogonadotropic hypogonadism (TCF12)Coronal (bilateral)Plagiocephaly (anterior)[97]
Hypomandibular faciocranial dysostosisCoronal[98]
Hypophosphatemic rickets, autosomal recessive (DMP1)[99]

I

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
IMAGe syndromeMacrocephaly[100]
Infantile hypophosphatasia[101]
Intellectual developmental disorder with autistic features and language delay, with or without seizuresMicrocephaly[102]
Intellectual disability, autosomal dominant (TLK2)Microcephaly[103]
Intellectual disability, X-linked syndromic, Turner type (HUWE1)Brachycephaly, trigonocephalyMacrocephaly or microcephaly[104]
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndromeBrachycephaly[105]

J

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
Jackson-Weiss syndrome[106]

L

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
Larsen-like syndrome, B3GAT3 typeBrachycephaly[107]
Lethal occipital encephalocele-skeletal dysplasia syndromeBrachycephaly[108]
Loeys-Dietz syndromeDolichocephaly[109] [110] [111] [112] [113]
Lowry-MacLean syndromeMicrocephaly[114]

M

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
Mandibular prognathia[115]
Marshall-Smith syndromeDolichocephaly[116]
Meier-Gorlin syndromeSagittalMicrocephaly (progressive)[117]
Metaphyseal acroscyphodysplasia[118]
Metaphyseal chondrodysplasia-retinitis pigmentosa syndromeMacrocephaly[119]
Microcephaly-micromelia syndromeMicrocephaly[120]
Monosomy 9q22.3 (microdeletion)MetopicSame characteristic features as Gorlin syndrome, including macrocephaly[121]
Mosaic variegated aneuploidy syndromeDolichocephalyMicrocephaly[122]
Mucolipidosis type IITrigonocephaly[123]
Muenke syndromeCoronalBrachycephaly, plagiocephalyMacrocephaly[124]
Multiple congenital anomalies-neurodevelopmental syndrome, X-linkedMetopicMacrocephaly or microcephaly[125]

N

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (NEDMISB)Microcephaly[126]
Neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID)Macrocephaly[127]
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutationDolichocephaly[128]
Noonan syndrome-like disorder with loose anagen hair (PPP1CB)Macrocephaly (relative)[129]

O

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndromeDescribed in 2 brothers, one of whom died within a month of birth.[130]
Osteoglophonic dysplasiaCloverleaf skullMild cloverleaf skull presentation closer to a more tower-shaped skull.[131]
Osteosclerosis, Stanescu typeBrachycephalyMicrocephaly[132]
Osteosclerosis-developmental delay-craniosynostosis syndromeBrachycephalyMacrocephaly; described in 13 patients from a four-generation family.[133]

P

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
Parenti-Mignot neurodevelopmental syndrome[134]
Peters plus syndromeMacrocephaly or microcephaly[135]
Pfeiffer syndromeCoronalBrachyturricephaly, cloverleaf skullAlso classified as Acrocephalosyndactyly type V.[136]
Potocki-Shaffer syndromeBrachycephaly, turricephaly[137]
Progeroid and marfanoid aspect-lipodystrophy syndromeScaphocephalyMacrocephaly[138]
Pseudo-Hurler polydystrophy[139]

R

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
Rahman syndromeMacrocephaly[140]
Rienhoff syndromeBrachycephaly, dolichocephalyUsually classified as LDS type 5.[141]
Roberts-SC phocomelia syndromeBrachycephalyMicrocephaly[142]
Robinow-Sorauf syndromePansynostosisPlagiocephalyNow classified as a variant of SCS.[143]

S

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
Saethre-Chotzen syndromeCoronalBrachycephaly, oxycephaly, plagiocephalyDelayed suture closure; also classified as Acrocephalosyndactyly type III.[144]
Saldino-Mainzer syndromeScaphocephaly, trigonocephalyMicrocephaly[145]
Shprintzen-Goldberg syndromeDolichocephaly, brachyturricephalyMicrocephaly[146]
SLC39A8-CDG[147]
Spondyloepiphyseal dysplasia, Nishimura type[148]
Structural brain anomalies with impaired intellectual development and craniosynostosisCoronalBrachycephalyMicrocephaly[149]
Summitt syndromeOxycephalyLast reported 1979; now classified as Carpenter syndrome variant.[150] [151] [152]
Syndactyly type 1 (2q35 duplication)Sagittal[153]
Syndactyly-telecanthus-anogenital and renal malformations syndrome[154]

T

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
Thanatophoric dysplasiaCloverleaf skullMacrocephaly[155] [156] [157]
Tolchin-Le Caignec syndromeScaphocephaly, oxycephalyLarge head circumference[158]
Trigonocephaly (FGFR1)MetopicTrigonocephalyMicrocephaly; usually considered nonsyndromic.[159]
Trigonocephaly (FREM1)MetopicTrigonocephalyMicrocephaly; usually considered nonsyndromic.[160]
Trigonocephaly-broad thumbs syndromeTrigonocephalyDescribed in a mother and son.[161]

V

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
Van den Ende-Gupta syndromeScaphocephaly[162]

Z

!Condition!Image!Impacted sutures!Cranial shape!Notes!Sources
ZTTK syndromeMacrocephaly (can be relative)[163]

Notes and References

  1. Web site: 3MC syndrome 2 (Concept Id: C0796279) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  2. Web site: 3MC syndrome 3 (Concept Id: C0796032) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  3. Web site: 8q22.1 microdeletion syndrome (Concept Id: C1842464) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  4. Web site: 15q overgrowth syndrome (Concept Id: C4749920) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  5. Web site: Acrocephalopolydactyly (Concept Id: C3495588) - MedGen - NCBI . 2023-07-02 . www.ncbi.nlm.nih.gov.
  6. Web site: Acrocephalosyndactyly type I (Concept Id: C0001193) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  7. Web site: Acrocephalosyndactyly type V (Concept Id: C0265303) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  8. Web site: ACROCEPHALOPOLYSYNDACTYLY TYPE IV . 2023-07-06 . omim.org . en-us.
  9. Web site: Acrocephalopolysyndactyly type III (Concept Id: C1275079) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  10. Web site: Acrocraniofacial dysostosis (Concept Id: C1860145) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  11. Web site: Adducted thumb (Concept Id: C0431886) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  12. Web site: Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome (Concept Id: C1864848) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  13. Web site: Aneurysm-osteoarthritis syndrome (Concept Id: C3151087) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  14. Web site: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (Concept Id: C2936791) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  15. Web site: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (Concept Id: C3150099) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  16. Web site: Aprosencephaly cerebellar dysgenesis (Concept Id: C1832412) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  17. Web site: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development (Concept Id: C4748872) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  18. Web site: Aurocephalosyndactyly (Concept Id: C1862380) - MedGen - NCBI . 2023-07-02 . www.ncbi.nlm.nih.gov.
  19. Web site: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome (Concept Id: C4225396) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  20. Web site: Autosomal recessive osteopetrosis 1 (Concept Id: C1850127) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  21. Web site: Baller-Gerold syndrome (Concept Id: C0265308) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  22. Web site: Beare-Stevenson cutis gyrata syndrome (Concept Id: C1852406) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  23. Web site: Bent bone dysplasia syndrome 1 (Concept Id: C3281247) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  24. Web site: Bonnemann-Meinecke-Reich syndrome (Concept Id: C1856973) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  25. Web site: Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia (Concept Id: C1864965) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  26. Web site: Cardiocranial syndrome, Pfeiffer type (Concept Id: C1857495) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  27. Web site: Carpenter syndrome (Concept Id: C1275078) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  28. Web site: MEGF8-related Carpenter syndrome (Concept Id: C3554247) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  29. Web site: RAB23-related Carpenter syndrome (Concept Id: C4551510) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  30. Web site: CEBALID syndrome (Concept Id: C5394044) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  31. Web site: Cerebrooculonasal syndrome (Concept Id: C1854108) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  32. Web site: Char syndrome (Concept Id: C1868570) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  33. Web site: Childhood hypophosphatasia (Concept Id: C0220743) - MedGen - NCBI . 2023-07-02 . www.ncbi.nlm.nih.gov.
  34. Web site: Chromosome 5p13 duplication syndrome (Concept Id: C2750805) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  35. Web site: Cloverleaf skull syndrome (Concept Id: C0432126) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  36. Web site: Cloverleaf skull-asphyxiating thoracic dysplasia syndrome (Concept Id: C5190852) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  37. Web site: Cloverleaf skull-multiple congenital anomalies syndrome (Concept Id: C1846671) . 2023-07-26 . www.ncbi.nlm.nih.gov . en.
  38. Web site: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (Concept Id: C1867440) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  39. Web site: Cole-Carpenter syndrome (Concept Id: C1862178) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  40. Web site: Cole-Carpenter syndrome 1 (Concept Id: C4317154) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  41. Web site: Cole-Carpenter syndrome 2 (Concept Id: C4225382) - MedGen - NCBI . 2023-07-05 . www.ncbi.nlm.nih.gov.
  42. Web site: Cranioectodermal dysplasia (Concept Id: C4551571) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  43. Web site: Cranioectodermal dysplasia 1 (Concept Id: C0432235) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  44. Web site: Cranioectodermal dysplasia 2 (Concept Id: C3150874) - MedGen - NCBI . 2023-07-02 . www.ncbi.nlm.nih.gov.
  45. Web site: Cranioectodermal dysplasia 3 (Concept Id: C3279807) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  46. Web site: Cranioectodermal dysplasia 4 (Concept Id: C3280616) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  47. Web site: Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 (Concept Id: C5677021) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  48. Web site: Craniofacial dyssynostosis (Concept Id: C1857511) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  49. Web site: Craniofacial dysplasia - osteopenia syndrome (Concept Id: C1970027) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  50. Web site: Craniofrontonasal dysplasia-Poland anomaly syndrome (Concept Id: CN199598) - MedGen - NCBI . 2023-07-06 . www.ncbi.nlm.nih.gov.
  51. Web site: Craniofrontonasal syndrome (Concept Id: C0220767) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  52. Web site: Craniorhiny (Concept Id: C1852501) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  53. Web site: Craniosynostosis 2 (Concept Id: C1858160) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  54. Web site: Craniosynostosis 5, susceptibility to (Concept Id: C3809819) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  55. Web site: Craniosynostosis 6 (Concept Id: C4225269) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  56. Web site: Craniosynostosis 7 (Concept Id: C4479496) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  57. Web site: TWIST1-related craniosynostosis (Concept Id: C4551902) - MedGen - NCBI . 2023-07-03 . www.ncbi.nlm.nih.gov.
  58. Web site: TCF12-related craniosynostosis (Concept Id: C3715051) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  59. Web site: Craniosynostosis 4 (Concept Id: C1833340) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  60. Web site: Craniosynostosis and dental anomalies (Concept Id: C3280073) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  61. Web site: Craniosynostosis with anomalies of the cranial base and digits (Concept Id: C1857493) - MedGen - NCBI . 2023-07-02 . www.ncbi.nlm.nih.gov.
  62. Web site: Craniosynostosis with ocular abnormalities and hallucal defects (Concept Id: C1842316) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  63. Web site: Craniosynostosis, Adelaide type (Concept Id: C1833578) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  64. Web site: Craniosynostosis, Philadelphia type (Concept Id: C1832590) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  65. Web site: Craniosynostosis-anal anomalies-porokeratosis syndrome (Concept Id: C1864186) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  66. Web site: Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome (Concept Id: C1838347) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  67. Web site: Craniosynostosis-fibular aplasia syndrome (Concept Id: C1857492) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  68. Web site: Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome (Concept Id: C3267187) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  69. Web site: Craniosynostosis-intellectual disability syndrome of 51N and Gettig (Concept Id: C1857473) - MedGen - NCBI . 2023-07-06 . www.ncbi.nlm.nih.gov.
  70. Web site: Craniosynostosis-intellectual disability-clefting syndrome (Concept Id: C1857472) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  71. Web site: Craniosynostosis-intracranial calcifications syndrome (Concept Id: C1842058) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  72. Web site: Craniotelencephalic dysplasia (Concept Id: C1857471) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  73. Web site: Crouzon syndrome (Concept Id: C0010273) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  74. Web site: Crouzon syndrome-acanthosis nigricans syndrome (Concept Id: C2677099) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  75. Web site: Curry-Jones syndrome (Concept Id: C0795915) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  76. Web site: Cutis laxa, autosomal recessive, type 2E (Concept Id: C5561944) - MedGen - NCBI . 2023-07-02 . www.ncbi.nlm.nih.gov.
  77. Web site: DEGCAGS syndrome (Concept Id: C5561967) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  78. Web site: Developmental delay with short stature, dysmorphic facial features, and sparse hair (Concept Id: C4310801) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  79. Web site: Distal 10q deletion syndrome (Concept Id: C2674937) - MedGen - NCBI . 2023-07-02 . www.ncbi.nlm.nih.gov.
  80. Web site: Distal monosomy 7p (Concept Id: C5190515) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  81. Web site: Distal trisomy 1p36 (Concept Id: C4707665) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  82. Web site: Distal trisomy 5q (Concept Id: C4706363) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  83. Web site: Distal symphalangism (Concept Id: C1861401) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  84. Web site: Ehlers-Danlos syndrome, spondylodysplastic type, 1 (Concept Id: C4552003) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  85. Web site: Familial scaphocephaly syndrome, McGillivray type (Concept Id: C1865070) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  86. Web site: Fontaine progeroid syndrome (Concept Id: C2676780) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  87. Web site: Frontometaphyseal dysplasia 1 (Concept Id: C4281559) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  88. Web site: Frontonasal dysplasia with alopecia and genital anomaly (Concept Id: C3150703) - MedGen - NCBI . 2023-07-02 . www.ncbi.nlm.nih.gov.
  89. Web site: Glass-chapman-hockley syndrome (Concept Id: CN268574) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  90. Web site: Gomez Lopez Hernandez syndrome (Concept Id: C0795959) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  91. Web site: Greig cephalopolysyndactyly syndrome (Concept Id: C0265306) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  92. Web site: Hartsfield-Bixler-Demyer syndrome (Concept Id: C1845146) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  93. Web site: Holoprosencephaly-craniosynostosis syndrome (Concept Id: C1832424) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  94. Web site: Hunter-McAlpine craniosynostosis (Concept Id: C1832408) - MedGen - NCBI . 2023-07-02 . www.ncbi.nlm.nih.gov.
  95. Web site: Hyper-IgE recurrent infection syndrome 1, autosomal dominant (Concept Id: C4721531) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  96. Web site: Hyper-IgE recurrent infection syndrome 4, autosomal recessive (Concept Id: C5193141) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  97. Web site: Hypogonadotropic hypogonadism 26 with or without anosmia (Concept Id: C5676903) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  98. Web site: Hypomandibular faciocranial dysostosis (Concept Id: C1855848) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  99. Web site: Hypophosphatemic rickets, autosomal recessive, 1 (Concept Id: C4551495) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  100. Web site: IMAGe syndrome (Concept Id: C1846009) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  101. Web site: Infantile hypophosphatasia (Concept Id: C0268412) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  102. Web site: Intellectual developmental disorder with autistic features and language delay, with or without seizures (Concept Id: C5394447) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  103. Web site: Intellectual disability, autosomal dominant 57 (Concept Id: C4748003) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  104. Web site: Intellectual disability, X-linked syndromic, Turner type (Concept Id: C2678046) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  105. Web site: Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome (Concept Id: C4751073) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  106. Web site: Jackson-Weiss syndrome (Concept Id: C0795998) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  107. Web site: Larsen-like syndrome, B3GAT3 type (Concept Id: C3278404) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  108. Web site: Lethal occipital encephalocele-skeletal dysplasia syndrome (Concept Id: C3280729) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  109. Web site: Loeys-Dietz syndrome (Concept Id: C2697932) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  110. Web site: Loeys-Dietz syndrome 1 (Concept Id: C4551955) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  111. Web site: Loeys-Dietz syndrome 2 (Concept Id: C2674574) . 2023-07-02 . www.ncbi.nlm.nih.gov . en.
  112. Web site: Loeys-Dietz syndrome 4 (Concept Id: C3553762) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  113. Web site: Loeys-Dietz syndrome 6 (Concept Id: C5562041) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  114. Web site: Lowry-MacLean syndrome (Concept Id: C0796020) - MedGen - NCBI . 2023-07-02 . www.ncbi.nlm.nih.gov.
  115. Web site: Mandibular prognathia (Concept Id: C0399526) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  116. Web site: Marshall-Smith syndrome (Concept Id: C0265211) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  117. Web site: Meier-Gorlin syndrome 7 (Concept Id: C4310738) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  118. Web site: Metaphyseal acroscyphodysplasia (Concept Id: C1855243) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  119. Web site: Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome (Concept Id: C1855188) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  120. Web site: Microcephaly-micromelia syndrome (Concept Id: C1855079) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  121. Web site: Monosomy 9q22.3 (Concept Id: C3711390) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  122. Web site: Mosaic variegated aneuploidy syndrome 2 (Concept Id: C3279843) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  123. Web site: Mucolipidosis type II (Concept Id: C2673377) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  124. Web site: Muenke syndrome (Concept Id: C1864436) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  125. Web site: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked (Concept Id: C5542341) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  126. Web site: Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (Concept Id: C5436747) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  127. Web site: Neurodevelopmental disorder with speech impairment and dysmorphic facies (Concept Id: C5436699) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  128. Web site: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation (Concept Id: C4225274) - MedGen - NCBI . 2023-07-03 . www.ncbi.nlm.nih.gov.
  129. Web site: Noonan syndrome-like disorder with loose anagen hair 2 (Concept Id: C4479577) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  130. Web site: Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome (Concept Id: C4302879) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  131. Web site: Osteoglophonic dysplasia (Concept Id: C0432283) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  132. Web site: Osteosclerosis - Stanescu type (Concept Id: C0432263) - MedGen - NCBI . 2023-07-05 . www.ncbi.nlm.nih.gov.
  133. Web site: Osteosclerosis-developmental delay-craniosynostosis syndrome (Concept Id: C4302818) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  134. Web site: Parenti-mignot neurodevelopmental syndrome (Concept Id: C5676984) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  135. Web site: Peters plus syndrome (Concept Id: C0796012) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  136. Web site: Pfeiffer syndrome (Concept Id: C0220658) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  137. Web site: Potocki-Shaffer syndrome (Concept Id: C1832588) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  138. Web site: Progeroid and marfanoid aspect-lipodystrophy syndrome (Concept Id: C4310796) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  139. Web site: Pseudo-Hurler polydystrophy (Concept Id: C0033788) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  140. Web site: Rahman syndrome (Concept Id: C4479637) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  141. Web site: Rienhoff syndrome (Concept Id: C3810012) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  142. Web site: Roberts-SC phocomelia syndrome (Concept Id: C0392475) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  143. Web site: Robinow-Sorauf syndrome (Concept Id: C1867146) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  144. Web site: Saethre-Chotzen syndrome (Concept Id: C0175699) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  145. Web site: Saldino-Mainzer syndrome (Concept Id: C1849437) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  146. Web site: Shprintzen-Goldberg syndrome (Concept Id: C1321551) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  147. Web site: SLC39A8-CDG (Concept Id: C4225234) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  148. Web site: Spondyloepiphyseal dysplasia, nishimura type (Concept Id: C4305147) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  149. Web site: Structural brain anomalies with impaired intellectual development and craniosynostosis (Concept Id: C5231485) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  150. Web site: Summitt syndrome (Concept Id: C1802405) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  151. Cohen . D. M. . Green . J. G. . Miller . J. . Gorlin . R. J. . Reed . J. A. . October 1987 . Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes . American Journal of Medical Genetics . 28 . 2 . 311–324 . 10.1002/ajmg.1320280208 . 0148-7299 . 3322002.
  152. Web site: SUMMITT SYNDROME . 2023-07-06 . omim.org . en-us.
  153. Web site: Syndactyly type 1 (Concept Id: C1861380) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  154. Web site: Syndactyly-telecanthus-anogenital and renal malformations syndrome (Concept Id: C2678045) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  155. Web site: Thanatophoric dysplasia (Concept Id: C0039743) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  156. Web site: Thanatophoric dysplasia type 1 (Concept Id: C1868678) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  157. Web site: Thanatophoric dysplasia, type 2 (Concept Id: C1300257) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  158. Web site: Tolchin-Le Caignec syndrome (Concept Id: C5436509) - MedGen - NCBI . 2023-07-06 . www.ncbi.nlm.nih.gov.
  159. Web site: Trigonocephaly 1 (Concept Id: C0432122) . 2023-07-03 . www.ncbi.nlm.nih.gov . en.
  160. Web site: Trigonocephaly 2 (Concept Id: C3280974) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  161. Web site: Trigonocephaly-broad thumbs syndrome (Concept Id: CN204378) . 2023-07-06 . www.ncbi.nlm.nih.gov . en.
  162. Web site: Van den Ende-Gupta syndrome (Concept Id: C1833136) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.
  163. Web site: ZTTK syndrome (Concept Id: C4310696) . 2023-07-05 . www.ncbi.nlm.nih.gov . en.

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