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Aglossia-adactyly syndrome

MedGen UID:
354928
Concept ID:
C1863203
Disease or Syndrome
Synonyms: Aglossia adactylia; Hanhart syndrome; HYPOGLOSSIA-HYPODACTYLIA; Hypoglossia-hypodactylia syndrome; Hypoglossia-hypodactyly syndrome; Peromelia with micrognathia; PEROMELIA WITH MICROGNATHISM
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007073
OMIM®: 103300
Orphanet: ORPHA989

Definition

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 oromandibular 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). [from OMIM]

Clinical features

From HPO
Adactyly
MedGen UID:
116066
Concept ID:
C0238591
Congenital Abnormality
The absence of all phalanges of all the digits of a limb and the associated soft tissues.
Split hand
MedGen UID:
397570
Concept ID:
C2699510
Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Retrognathia
MedGen UID:
19766
Concept ID:
C0035353
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
Microglossia
MedGen UID:
10029
Concept ID:
C0025988
Congenital Abnormality
Decreased length and width of the tongue.
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Aglossia
MedGen UID:
57859
Concept ID:
C0158663
Congenital Abnormality
Absence of the tongue owing to a developmental abnormality.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAglossia-adactyly syndrome
Follow this link to review classifications for Aglossia-adactyly syndrome in Orphanet.

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