Details of Disease

General Information of Disease (ID: DISYMQMD)

Disease Name Frontorhiny
Synonyms
frontonasal dysplasia 1; frontonasal malformation; median Facial cleft syndrome; frontonasal dysplasia; isolated median cleft syndrome; FND1; isolated median cleft face syndrome; frontorhiny; ALX3-related frontonasal dysplasia; frontonasal dysplasia type 1
Definition
Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.
Disease Hierarchy
DISXV4YX: Frontonasal dysplasia
DISYMQMD: Frontorhiny
Disease Identifiers
MONDO ID
MONDO_0007636
UMLS CUI
C5574965
OMIM ID
136760
MedGen ID
1803615
Orphanet ID
391474
SNOMED CT ID
1230021007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ALX3 OTXZ25PZ Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.