MCID: HYP679
MIFTS: 34

Hypoglossia-Hypodactylia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hypoglossia-Hypodactylia

MalaCards integrated aliases for Hypoglossia-Hypodactylia:

Name: Hypoglossia-Hypodactylia 57 73
Hypoglossia-Hypodactyly Syndrome 59
Oromandibular Limb Hypoplasia 57
Peromelia with Micrognathism 57
Aglossia-Adactylia Syndrome 59
Aglossia-Adactylia 57
Hanhart's Syndrome 73
Hanhart Syndrome 59
Jussieu Syndrome 59
Mobius Syndrome 73

Characteristics:

Orphanet epidemiological data:

59
hypoglossia-hypodactyly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
isolated cases


HPO:

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


Classifications:



Summaries for Hypoglossia-Hypodactylia

OMIM : 57 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 An important gene associated with Hypoglossia-Hypodactylia is PLXND1 (Plexin D1). Affiliated tissues include bone and tongue, and related phenotypes are finger syndactyly and high palate

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 12.1
3 tyrosinemia 10.6
4 hydrocephalus 10.5
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 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

Symptoms via clinical synopsis from OMIM:

57
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:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
2 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
3 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
5 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
6 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
7 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
8 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
9 abnormality of the fingernails 59 32 frequent (33%) Frequent (79-30%) HP:0001231
10 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
11 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
12 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
13 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
14 split hand 59 32 frequent (33%) Frequent (79-30%) HP:0001171
15 hypodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000668
16 short distal phalanx of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009882
17 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
18 aplasia/hypoplasia of the tongue 59 32 hallmark (90%) Very frequent (99-80%) HP:0010295
19 gastroschisis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001543
20 upper limb phocomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009813
21 jejunal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0005235
22 adactyly 59 32 frequent (33%) Frequent (79-30%) HP:0009776
23 retrognathia 32 HP:0000278
24 death in infancy 59 Occasional (29-5%)
25 epicanthus 32 HP:0000286
26 cheekbone underdevelopment 59 Very frequent (99-80%)
27 aplasia/hypoplasia of fingers 59 Frequent (79-30%)
28 abnormality of the cranial nerves 59 Occasional (29-5%)
29 microglossia 32 HP:0000171
30 aglossia 32 HP:0012730
31 abnormal oral frenulum morphology 32 HP:0000190
32 abnormal cranial nerve morphology 32 occasional (7.5%) HP:0001291
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:

41
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
Hypoglossia-hypodactyly syndrome in a Brazilian child: clinical and surgical aspects. ( 1391247 )
1992
15
The hypoglossia-hypodactylia syndrome: report of two cases. ( 1296439 )
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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