MCID: HYP679
MIFTS: 24

Hypoglossia-Hypodactylia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hypoglossia-Hypodactylia

MalaCards integrated aliases for Hypoglossia-Hypodactylia:

Name: Hypoglossia-Hypodactylia 54 69
Hypoglossia-Hypodactyly Syndrome 56
Aglossia-Adactylia Syndrome 56
Hanhart's Syndrome 69
Hanhart Syndrome 56
Jussieu Syndrome 56
Mobius Syndrome 69

Characteristics:

Orphanet epidemiological data:

56
hypoglossia-hypodactyly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

54
Inheritance:
isolated cases


HPO:

32
hypoglossia-hypodactylia:
Mortality/Aging death in infancy
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Hypoglossia-Hypodactylia

OMIM : 54
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). (103300)

MalaCards based summary : Hypoglossia-Hypodactylia, also known as hypoglossia-hypodactyly syndrome, is related to hanhart syndrome and hydrocephalus, and has symptoms including micrognathia, cleft palate and telecanthus. Affiliated tissues include bone and tongue.

Related Diseases for Hypoglossia-Hypodactylia

Diseases related to Hypoglossia-Hypodactylia via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hanhart syndrome 11.2
2 hydrocephalus 10.3
3 jejunal atresia 10.2
4 sensorineural hearing loss 10.2

Symptoms & Phenotypes for Hypoglossia-Hypodactylia

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Face:
micrognathia
retrognathia

Head And Neck- Eyes:
epicanthus

Skeletal- Feet:
ectrodactyly
adactylia
hypodactyly

Skeletal- Limbs:
limb hypoplasia

Head And Neck- Mouth:
microstomia
hypoglossia

Skeletal- Hands:
ectrodactyly
adactylia
hypodactyly

Head And Neck- Teeth:
absence of lower incisors


Clinical features from OMIM:

103300

Human phenotypes related to Hypoglossia-Hypodactylia:

56 32 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
2 cleft palate 56 32 frequent (33%) Frequent (79-30%) HP:0000175
3 telecanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000506
4 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
5 wide nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0000431
6 finger syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0006101
7 hypodontia 56 32 frequent (33%) Frequent (79-30%) HP:0000668
8 jejunal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0005235
9 high palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000218
10 facial asymmetry 56 32 occasional (7.5%) Occasional (29-5%) HP:0000324
11 feeding difficulties in infancy 56 32 occasional (7.5%) Occasional (29-5%) HP:0008872
12 anal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002023
13 split hand 56 32 frequent (33%) Frequent (79-30%) HP:0001171
14 narrow mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000160
15 gastroschisis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001543
16 neurological speech impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0002167
17 abnormality of the fingernails 56 32 frequent (33%) Frequent (79-30%) HP:0001231
18 short distal phalanx of finger 56 32 frequent (33%) Frequent (79-30%) HP:0009882
19 aplasia/hypoplasia of the tongue 56 32 hallmark (90%) Very frequent (99-80%) HP:0010295
20 abnormality of the cranial nerves 56 32 occasional (7.5%) Occasional (29-5%) HP:0001291
21 upper limb phocomelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0009813
22 adactyly 56 32 frequent (33%) Frequent (79-30%) HP:0009776
23 brachydactyly 32 frequent (33%) HP:0001156
24 retrognathia 32 HP:0000278
25 microglossia 32 HP:0000171
26 aglossia 32 HP:0012730
27 epicanthus 32 HP:0000286
28 death in infancy 56 Occasional (29-5%)
29 brachydactyly syndrome 56 Frequent (79-30%)
30 cheekbone underdevelopment 56 Very frequent (99-80%)
31 abnormality of oral frenula 32 HP:0000190
32 aplasia/hypoplasia of fingers 56 Frequent (79-30%)
33 hypoplasia of the zygomatic bone 32 hallmark (90%) HP:0010669

UMLS symptoms related to Hypoglossia-Hypodactylia:


palatal weakness

Drugs & Therapeutics for Hypoglossia-Hypodactylia

Search Clinical Trials , NIH Clinical Center for Hypoglossia-Hypodactylia

Genetic Tests for Hypoglossia-Hypodactylia

Anatomical Context for Hypoglossia-Hypodactylia

MalaCards organs/tissues related to Hypoglossia-Hypodactylia:

39
Bone, Tongue

Publications for Hypoglossia-Hypodactylia

Articles related to Hypoglossia-Hypodactylia:

id Title Authors Year
1
Severe form of hypoglossia-hypodactylia syndrome associated with complex cardiopathy: a case report. ( 20637513 )
2010
2
Oromandibular limb hypogenesis syndrome, type IIA, hypoglossia-hypodactylia: a case report. ( 17850440 )
2007
3
Report of a patient with hypoglossia-hypodactylia syndrome and a review of the literature. ( 12605528 )
2003
4
Case report: hypoglossia-hypodactylia syndrome. ( 8707940 )
1996
5
Hypoglossia-hypodactylia (Hanhart's) syndrome with sensorineural hearing loss. ( 7825244 )
1994
6
The hypoglossia-hypodactylia syndrome: report of two cases. ( 1296439 )
1992
7
Hypoglossia-hypodactylia syndrome with jejunal atresia in an infant of a diabetic mother. ( 1642280 )
1992
8
Oromandibular-limb hypogenesis syndrome: type II A, hypoglossia-hypodactylia--report of a case. ( 1333279 )
1992
9
The hypoglossia--hypodactylia syndrome. Report of 2 cases. ( 6940078 )
1981
10
Hypoglossia-hypodactylia syndrome: report of a case. ( 6940988 )
1980

Variations for Hypoglossia-Hypodactylia

Expression for Hypoglossia-Hypodactylia

Search GEO for disease gene expression data for Hypoglossia-Hypodactylia.

Pathways for Hypoglossia-Hypodactylia

GO Terms for Hypoglossia-Hypodactylia

Sources for Hypoglossia-Hypodactylia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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