Trigonocephaly-bifid nose-acral anomalies syndrome explained

Trigonocephaly-bifid nose-acral anomalies syndrome
Causes:Autosomal recessive inheritance
Risk:-->
Prevention:none
Management:-->
Prognosis:Good
Frequency:very rare, only 2 cases have been described in medical literature
Deaths:-

Trigonocephaly-bifid nose-acral anomalies syndrome is a very rare genetic disorder which is characterized by trigonobrachycephaly, narrow forehead, up-ward slanting palpebral fissures, bulbous, slightly bifid nose, macrostomia, thin upper lip, macrognathia (facial dysmorphisms), broad thumbs, rather large toes, broad fingertips with short nail beds, joint hypermobility and fifth finger clinodactyly (acral).[1] Additional findings include short height, hypotonia and severe psychomotor retardation.[2] It has been described in a brother and a sister born to healthy consanguineous Palestinian Arab parents.[3] [4]

Notes and References

  1. Web site: Trigonocephaly-bifid nose-acral anomalies syndrome (Concept Id: C1848743) - MedGen - NCBI . 2022-06-12 . www.ncbi.nlm.nih.gov . en.
  2. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Trigonocephaly bifid nose acral anomalies syndrome . 2022-06-12 . www.orpha.net . en.
  3. Web site: OMIM Entry - 275595 - TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES OF THE HANDS AND FEET . 2022-06-12 . omim.org . en-us.
  4. Teebi . A. S. . 1991-03-15 . Trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia in sibs . American Journal of Medical Genetics . 38 . 4 . 529–531 . 10.1002/ajmg.1320380405 . 0148-7299 . 2063891.