MCID: HYP679
MIFTS: 28

Hypoglossia-Hypodactylia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hypoglossia-Hypodactylia

MalaCards integrated aliases for Hypoglossia-Hypodactylia:

Name: Hypoglossia-Hypodactylia 53 69
Hypoglossia-Hypodactyly Syndrome 55
Oromandibular Limb Hypoplasia 53
Peromelia with Micrognathism 53
Aglossia-Adactylia Syndrome 55
Aglossia-Adactylia 53
Hanhart's Syndrome 69
Hanhart Syndrome 55
Jussieu Syndrome 55
Mobius Syndrome 69

Characteristics:

Orphanet epidemiological data:

55
hypoglossia-hypodactyly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

53
Inheritance:
isolated cases


HPO:

31
hypoglossia-hypodactylia:
Mortality/Aging death in infancy
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Hypoglossia-Hypodactylia

OMIM : 53 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 finger syndactyly, high palate and intellectual disability. 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:

# Related Disease Score Top Affiliating Genes
1 hanhart syndrome 11.5
2 hydrocephalus 10.4
3 jejunal atresia 10.3
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
5 sensorineural hearing loss 10.3

Graphical network of the top 20 diseases related to Hypoglossia-Hypodactylia:



Diseases related to Hypoglossia-Hypodactylia

Symptoms & Phenotypes for Hypoglossia-Hypodactylia

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Face:
micrognathia
retrognathia

Skeletal Hands:
ectrodactyly
adactylia
hypodactyly

Head And Neck Mouth:
hypoglossia
microstomia

Skeletal Limbs:
limb hypoplasia

Head And Neck Eyes:
epicanthus

Skeletal Feet:
ectrodactyly
adactylia
hypodactyly

Head And Neck Teeth:
absence of lower incisors


Clinical features from OMIM:

103300

Human phenotypes related to Hypoglossia-Hypodactylia:

55 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 55 31 frequent (33%) Frequent (79-30%) HP:0006101
2 high palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000218
3 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
4 neurological speech impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0002167
5 wide nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000431
6 feeding difficulties in infancy 55 31 occasional (7.5%) Occasional (29-5%) HP:0008872
7 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
8 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
9 abnormality of the fingernails 55 31 frequent (33%) Frequent (79-30%) HP:0001231
10 telecanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000506
11 narrow mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000160
12 brachydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001156
13 anal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002023
14 split hand 55 31 frequent (33%) Frequent (79-30%) HP:0001171
15 hypodontia 55 31 frequent (33%) Frequent (79-30%) HP:0000668
16 short distal phalanx of finger 55 31 frequent (33%) Frequent (79-30%) HP:0009882
17 facial asymmetry 55 31 occasional (7.5%) Occasional (29-5%) HP:0000324
18 aplasia/hypoplasia of the tongue 55 31 hallmark (90%) Very frequent (99-80%) HP:0010295
19 gastroschisis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001543
20 abnormality of the cranial nerves 55 31 occasional (7.5%) Occasional (29-5%) HP:0001291
21 upper limb phocomelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0009813
22 jejunal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0005235
23 adactyly 55 31 frequent (33%) Frequent (79-30%) HP:0009776
24 retrognathia 31 HP:0000278
25 death in infancy 55 Occasional (29-5%)
26 epicanthus 31 HP:0000286
27 cheekbone underdevelopment 55 Very frequent (99-80%)
28 aplasia/hypoplasia of fingers 55 Frequent (79-30%)
29 microglossia 31 HP:0000171
30 aglossia 31 HP:0012730
31 abnormal oral frenulum morphology 31 HP:0000190
32 hypoplasia of the zygomatic bone 31 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:

38
Bone, Tongue

Publications for Hypoglossia-Hypodactylia

Articles related to Hypoglossia-Hypodactylia:

(show all 18)
# Title Authors Year
1
Hypoglossia-hypodactyly syndrome with short stature - a case report. ( 24959494 )
2014
2
Hypoglossia-hypodactyly syndrome in a newborn. ( 20673638 )
2011
3
Severe form of hypoglossia-hypodactylia syndrome associated with complex cardiopathy: a case report. ( 20637513 )
2010
4
Oromandibular limb hypogenesis syndrome, type IIA, hypoglossia-hypodactylia: a case report. ( 17850440 )
2007
5
Report of a patient with hypoglossia-hypodactylia syndrome and a review of the literature. ( 12605528 )
2003
6
Hypoglossia-hypodactyly syndrome: report of 2 patients. ( 11837603 )
2001
7
Treatment of hypoglossia-hypodactyly syndrome without extremeity anomalies. ( 10946924 )
2000
8
An unusual case of hypoglossia-hypodactyly syndrome. ( 10096628 )
1999
9
Case report: hypoglossia-hypodactylia syndrome. ( 8707940 )
1996
10
Hypoglossia-hypodactylia (Hanhart's) syndrome with sensorineural hearing loss. ( 7825244 )
1994
11
Hypoglossia-hypodactyly syndrome with hydrocephalus. ( 1583652 )
1992
12
Oromandibular-limb hypogenesis syndrome: type II A, hypoglossia-hypodactylia--report of a case. ( 1333279 )
1992
13
Hypoglossia-hypodactylia syndrome with jejunal atresia in an infant of a diabetic mother. ( 1642280 )
1992
14
The hypoglossia-hypodactylia syndrome: report of two cases. ( 1296439 )
1992
15
Hypoglossia-hypodactyly syndrome in a Brazilian child: clinical and surgical aspects. ( 1391247 )
1992
16
Hypoglossia-hypodactyly syndrome with hydrocephalus: a clue to the aetiology? ( 1895321 )
1991
17
The hypoglossia--hypodactylia syndrome. Report of 2 cases. ( 6940078 )
1981
18
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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