View source for Medicine:Trigonocephaly-bifid nose-acral anomalies syndrome

{{Infobox medical condition
 |name            = Trigonocephaly-bifid nose-acral anomalies syndrome
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 |image           = Trigonocephaly (2).png
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 |specialty       = Medical genetics
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 |causes          = Autosomal recessive inheritance
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 |prevention      = none
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 |prognosis       = Good
 |frequency       = very rare, only 2 cases have been described in medical literature
 |deaths          = -
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'''Trigonocephaly-bifid nose-acral anomalies syndrome''' is a very rare [[Medicine:Genetic disorder|genetic disorder]] which is characterized by trigonobrachycephaly, narrow forehead, up-ward slanting palpebral fissures, bulbous, slightly [[Medicine:Bifid nose|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).<ref>{{Cite web |title=Trigonocephaly-bifid nose-acral anomalies syndrome (Concept Id: C1848743) - MedGen - NCBI |url=https://www.ncbi.nlm.nih.gov/medgen/341296 |access-date=2022-06-12 |website=www.ncbi.nlm.nih.gov |language=en}}</ref> Additional findings include short height, [[Medicine:Hypotonia|hypotonia]] and severe [[Engineering:Psychomotor retardation|psychomotor retardation]].<ref>{{Cite web |last=RESERVED |first=INSERM US14-- ALL RIGHTS |title=Orphanet: Trigonocephaly bifid nose acral anomalies syndrome |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3368 |access-date=2022-06-12 |website=www.orpha.net |language=en}}</ref> It has been described in a brother and a sister born to healthy consanguineous Palestianian Arab parents.<ref>{{Cite web |title=OMIM Entry - 275595 - TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES OF THE HANDS AND FEET |url=https://omim.org/entry/275595 |access-date=2022-06-12 |website=omim.org |language=en-us}}</ref><ref>{{Cite journal |last=Teebi |first=A. S. |date=1991-03-15 |title=Trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia in sibs |url=https://pubmed.ncbi.nlm.nih.gov/2063891/ |journal=American Journal of Medical Genetics |volume=38 |issue=4 |pages=529–531 |doi=10.1002/ajmg.1320380405 |issn=0148-7299 |pmid=2063891}}</ref>

== References ==
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