Hypoglossia - hypodactyly

General Information (adopted from Orphanet):

Synonyms, Signs: AGLOSSIA-ADACTYLIA HANHART SYNDROME, INCLUDED
OROMANDIBULAR LIMB HYPOPLASIA
PEROMELIA WITH MICROGNATHISM
Hanhart syndrome
Jussieu syndrome
Aglossia - adactylia
Number of Symptoms 38
OrphanetNr: 989
OMIM Id: 103300
ICD-10: Q87.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 50 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Branchial arch or oral-acral syndrome
 -Rare developmental defect during embryogenesis
Genetic branchial arch or oral-acral syndrome
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Oro-mandibular-limb hypogenesis syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
2
 (HPO:0000347) Micrognathia 426 / 7739
3
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
4
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
5
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
6
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
7
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
8
 (HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
9
 (HPO:0000278) Retrognathia 100 / 7739
10
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
11
 (HPO:0000190) Abnormality of oral frenula 3 / 7739
12
 (HPO:0000286) Epicanthus 371 / 7739
13
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
14
 (HPO:0000171) Microglossia Very frequent [Orphanet] 27 / 7739
15
 (HPO:0001291) Abnormality of the cranial nerves Occasional [Orphanet] 27 / 7739
16
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
17
 (HPO:0009882) Short distal phalanx of finger Frequent [Orphanet] 125 / 7739
18
 (HPO:0001171) Split hand 72 / 7739
19
 (HPO:0009380) Aplasia of the fingers Frequent [Orphanet] 51 / 7739
20
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
21
 (HPO:0009776) Adactyly 11 / 7739
22
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
23
 (HPO:0100257) Ectrodactyly 27 / 7739
24
 (HPO:0001543) Gastroschisis Occasional [Orphanet] 11 / 7739
25
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
26
 (HPO:0002242) Abnormality of the intestine Occasional [Orphanet] 42 / 7739
27
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
28
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
29
 (OMIM) Absence of lower incisors 1 / 7739
30
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
31
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
32
 (OMIM) Hypodactyly 1 / 7739
33
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
34
 (OMIM) Adactylia 1 / 7739
35
 (HPO:0012730) Aglossia 3 / 7739
36
 (OMIM) Limb hypoplasia 2 / 7739
37
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
38
 (HPO:0040065) Abnormal morphology of bones of the upper limbs Very frequent [Orphanet] 25 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Hanhart (1950) described 3 cases of the same disorder; 2 were related and, in the third, the parents were consanguineous. Features included peromelia and micrognathia.

In Turkey, Tuncbilek et al. (1977) observed 3 sporadic cases, each ...