Preferred Label : Hypoglossia-hypodactylia;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Peromelia with micrognathism; Oromandibular limb hypoplasia; AGLOSSIA-ADACTYLIA;
Included titles and symbols : Hanhart syndrome;
Description : Hypoglossia-hypodactyly syndrome is characterized by a hypoplastic mandible, absence
of the lower incisors, hypoglossia, and a variable degree of absence of the digits
and limbs. Intelligence is normal (Hall, 1971). Hall (1971) classified what he termed
the 'syndromes of oromandicular and limb hypogenesis,' which comprised a range of
disorders with hypoglossia in common. Type I included hypoglossia and aglossia in
isolation. Type II included hypoglossia with hypomelia/ hypodactylia. Type III included
glossopalatine ankylosis with hypoglossia or hypoglossia and hypomelia/hypodactyly.
Type IV included intraoral bands with fusion with hypoglossia or hypoglossia and hypomelia/hypodactyly.
Type V included several syndromes, such as Hanhart syndrome, Pierre Robin syndrome
(261800), Moebius syndrome (157900), and amniotic band syndrome (217100). Hall (1971)
noted that complete aglossia or adactylia had not been reported, and suggested that
'hypoglossia-hypodactylia' is a more accurate term. See also hypoglossia and situs
inversus (612776).;
Inheritance : Isolated cases;
Prefixed ID : %103300;
Origin ID : 103300;
UMLS CUI : C1863203;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
