MCID: HYP679
MIFTS: 27

Hypoglossia-Hypodactylia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hypoglossia-Hypodactylia

MalaCards integrated aliases for Hypoglossia-Hypodactylia:

Name: Hypoglossia-Hypodactylia 58 74
Hypoglossia-Hypodactyly Syndrome 60
Oromandibular Limb Hypoplasia 58
Peromelia with Micrognathism 58
Aglossia-Adactylia Syndrome 60
Aglossia-Adactylia 58
Hanhart's Syndrome 74
Hanhart Syndrome 60
Jussieu Syndrome 60
Mobius Syndrome 74

Characteristics:

Orphanet epidemiological data:

60
hypoglossia-hypodactyly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
isolated cases


HPO:

33
hypoglossia-hypodactylia:
Clinical modifier death in infancy
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Hypoglossia-Hypodactylia

OMIM : 58 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 tyrosinemia, type ii, and has symptoms including palatal weakness Affiliated tissues include bone and tongue, and related phenotypes are micrognathia and narrow mouth

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 12.4
2 tyrosinemia, type ii 11.8
3 tyrosinemia 10.6
4 hydrocephalus 10.6
5 jejunal atresia 10.4
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
7 sensorineural hearing loss 10.4
8 keratitis, hereditary 10.0
9 corneal dystrophy 10.0

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



Diseases related to Hypoglossia-Hypodactylia

Symptoms & Phenotypes for Hypoglossia-Hypodactylia

Human phenotypes related to Hypoglossia-Hypodactylia:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
2 narrow mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000160
3 aplasia/hypoplasia of the tongue 60 33 hallmark (90%) Very frequent (99-80%) HP:0010295
4 upper limb phocomelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0009813
5 hypoplasia of the zygomatic bone 33 hallmark (90%) HP:0010669
6 finger syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0006101
7 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
8 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
9 telecanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000506
10 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
11 split hand 60 33 frequent (33%) Frequent (79-30%) HP:0001171
12 hypodontia 60 33 frequent (33%) Frequent (79-30%) HP:0000668
13 short distal phalanx of finger 60 33 frequent (33%) Frequent (79-30%) HP:0009882
14 adactyly 60 33 frequent (33%) Frequent (79-30%) HP:0009776
15 abnormal fingernail morphology 33 frequent (33%) HP:0001231
16 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
17 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
18 neurological speech impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002167
19 feeding difficulties in infancy 60 33 occasional (7.5%) Occasional (29-5%) HP:0008872
20 anal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002023
21 facial asymmetry 60 33 occasional (7.5%) Occasional (29-5%) HP:0000324
22 gastroschisis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001543
23 jejunal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0005235
24 abnormal cranial nerve morphology 33 occasional (7.5%) HP:0001291
25 retrognathia 33 HP:0000278
26 death in infancy 60 Occasional (29-5%)
27 epicanthus 33 HP:0000286
28 abnormality of the fingernails 60 Frequent (79-30%)
29 cheekbone underdevelopment 60 Very frequent (99-80%)
30 aplasia/hypoplasia of fingers 60 Frequent (79-30%)
31 abnormality of the cranial nerves 60 Occasional (29-5%)
32 microglossia 33 HP:0000171
33 aglossia 33 HP:0012730

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
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
The hypoglossia-hypodactylia syndrome: report of two cases. ( 1296439 )
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
Hypoglossia-hypodactyly syndrome in a Brazilian child: clinical and surgical aspects. ( 1391247 )
1992
15
Hypoglossia-hypodactyly syndrome with hydrocephalus. ( 1583652 )
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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....