Medicine:Trigonocephaly-bifid nose-acral anomalies syndrome
From HandWiki
| Trigonocephaly-bifid nose-acral anomalies syndrome | |
|---|---|
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| Specialty | Medical genetics |
| Causes | Autosomal recessive inheritance |
| Prevention | none |
| 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 Palestianian Arab parents.[3][4]
References
- ↑ "Trigonocephaly-bifid nose-acral anomalies syndrome (Concept Id: C1848743) - MedGen - NCBI" (in en). https://www.ncbi.nlm.nih.gov/medgen/341296.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Trigonocephaly bifid nose acral anomalies syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3368.
- ↑ "OMIM Entry - 275595 - TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES OF THE HANDS AND FEET" (in en-us). https://omim.org/entry/275595.
- ↑ 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. doi:10.1002/ajmg.1320380405. ISSN 0148-7299. PMID 2063891. https://pubmed.ncbi.nlm.nih.gov/2063891/.
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