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 56 71
Hanhart Syndrome 52 58
Hypoglossia-Hypodactylia Syndrome 52
Hypoglossia-Hypodactyly Syndrome 58
Oromandibular Limb Hypoplasia 56
Peromelia with Micrognathism 56
Peromelia with Micrognathia 52
Aglossia-Adactylia Syndrome 58
Aglossia-Adactylia 56
Aglossia Adactylia 52
Hanhart's Syndrome 71
Jussieu Syndrome 58
Mobius Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
hypoglossia-hypodactyly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
isolated cases


HPO:

31
hypoglossia-hypodactylia:
Clinical modifier death in infancy
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Hypoglossia-Hypodactylia

OMIM : 56 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 hanhart syndrome, is related to tyrosinemia, type ii and tyrosinemia, and has symptoms including palatal weakness The drugs Methotrexate and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include tongue, bone and brain, and related phenotypes are micrognathia and narrow mouth

NIH Rare Diseases : 52 Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.

Wikipedia : 74 Hanhart syndrome (also known as Aglossia adactylia; Hypoglossia-hypodactylia syndrome; Peromelia with... more...

Related Diseases for Hypoglossia-Hypodactylia

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:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
2 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
3 hypoplasia of the zygomatic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010669
4 aplasia/hypoplasia of the tongue 58 31 hallmark (90%) Very frequent (99-80%) HP:0010295
5 upper limb phocomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0009813
6 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
7 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
8 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
9 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
10 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
11 split hand 58 31 frequent (33%) Frequent (79-30%) HP:0001171
12 hypodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000668
13 short distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009882
14 adactyly 58 31 frequent (33%) Frequent (79-30%) HP:0009776
15 abnormal fingernail morphology 31 frequent (33%) HP:0001231
16 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
17 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
18 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
19 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
20 abnormal cranial nerve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001291
21 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
22 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
23 gastroschisis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001543
24 jejunal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005235
25 retrognathia 31 HP:0000278
26 death in infancy 58 Occasional (29-5%)
27 epicanthus 31 HP:0000286
28 abnormality of the fingernails 58 Frequent (79-30%)
29 aplasia/hypoplasia of fingers 58 Frequent (79-30%)
30 microglossia 31 HP:0000171
31 aglossia 31 HP:0012730

Symptoms via clinical synopsis from OMIM:

56
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

Drugs for Hypoglossia-Hypodactylia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
2
leucovorin Approved Phase 4 58-05-9 6006 143
3
Misoprostol Approved Phase 4 59122-46-2 5282381
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
5 Immunosuppressive Agents Phase 4
6 Folic Acid Antagonists Phase 4
7 Oxytocics Phase 4
8 Vitamin B Complex Phase 4
9 Vitamin B9 Phase 4
10 Immunologic Factors Phase 4
11 Dermatologic Agents Phase 4
12 Anti-Ulcer Agents Phase 4
13 Folate Phase 4
14 Gastrointestinal Agents Phase 4
15 Antirheumatic Agents Phase 4
16 Antimetabolites Phase 4
17 Antacids Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparing Methotrexate Followed by Misoprostol to Misoprostol Alone for Early Abortion Completed NCT00129506 Phase 4 methotrexate + misoprostol;misoprostol
2 Impairments of Oral Language in Subjects With the Möbius Sequence Completed NCT00856531
3 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
4 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420
5 Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders Recruiting NCT02055248

Search NIH Clinical Center for Hypoglossia-Hypodactylia

Genetic Tests for Hypoglossia-Hypodactylia

Anatomical Context for Hypoglossia-Hypodactylia

MalaCards organs/tissues related to Hypoglossia-Hypodactylia:

40
Tongue, Bone, Brain, Eye, Liver, Skin

Publications for Hypoglossia-Hypodactylia

Articles related to Hypoglossia-Hypodactylia:

(show top 50) (show all 109)
# Title Authors PMID Year
1
Hanhart syndrome. 61 56
21290964 2010
2
Oromandibular limb hypogenesis complex (Hanhart syndrome): a severe adult phenotype. 61 56
10232758 1999
3
"Angel-shaped phalanx" in a boy with oromandibular-limb hypogenesis. 56
12707967 2003
4
Hypoglossia-hypodactyly syndrome: report of 2 patients. 56
11837603 2001
5
Oromandibular limb hypogenesis/Hanhart's syndrome: possible drug influence on the malformation. 56
6616945 1983
6
Aglossia-adactylia syndrome (special emphasis on the inheritance pattern). 56
880741 1977
7
Aglossia-adactylia syndrome. 56
1121025 1975
8
Aglossia-adactylia syndrome. 56
5263276 1970
9
Hypoglossia-hypodactyly syndrome in a newborn. 52
20673638 2011
10
Hanhart syndrome: hypoglossia-hypodactylia syndrome. 61
31312325 2019
11
Richner-Hanhart syndrome (tyrosinemia type II). 61
29360903 2017
12
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation. 61
28255985 2017
13
Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome. 61
27832414 2017
14
[Richner-Hanhart syndrome]. 61
26880079 2016
15
A Rare Case of Hanhart Syndrome with Mild Developmental Delay. 61
29485825 2016
16
An evaluation of the effects of acute and chronic L-tyrosine administration on BDNF levels and BDNF mRNA expression in the rat brain. 61
24091827 2014
17
Effect of acute administration of L-tyrosine on oxidative stress parameters in brain of young rats. 61
24135880 2013
18
Modification of mandibular advancement osteotomy in a patient with Hanhart syndrome. 61
24220429 2013
19
Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome. 61
23954227 2013
20
[Therapy for systemic metabolic disorders based on the detection of basic corneal landmarks in childhood]. 61
23794426 2013
21
Hypoglossia Type 1A: report of a case and review of literature with focus on clinical investigations. 61
22945721 2012
22
Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion. 61
22389994 2011
23
Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene. 61
21145993 2011
24
Severe form of hypoglossia-hypodactylia syndrome associated with complex cardiopathy: a case report. 61
20637513 2010
25
Richner-Hanhart syndrome detected by expanded newborn screening. 61
18577048 2008
26
[Two cases of Richner-Hanhart syndrome (oculocutaneous tyrosinemia)]. 61
18364160 2008
27
Oromandibular limb hypogenesis syndrome, type IIA, hypoglossia-hypodactylia: a case report. 61
17850440 2007
28
Increased frequency of severe major anomalies in children conceived by intracytoplasmic sperm injection. 61
17254001 2007
29
TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping. 61
16917729 2006
30
Corneal lesion as the initial manifestation of tyrosinemia type II. 61
16863017 2006
31
Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations. 61
16574453 2006
32
Richner-Hanhart syndrome (tyrosinemia II): early diagnosis of an incomplete presentation with unusual findings. 61
16780475 2006
33
Richner Hanhart syndrome. 61
16514229 2006
34
Richner-Hanhart syndrome: report of a case with a novel mutation of tyrosine aminotransferase. 61
16318910 2006
35
Tyrosinaemia type II with diffuse plantar keratoderma and self-mutilation. 61
16309482 2006
36
Plantar keratoderma: a manifestation of tyrosinemia type II (Richner-Hanhart syndrome). 61
16270769 2005
37
Intraoperative oxygen desaturation and electrocardiographic changes in a patient with Hanhart syndrome. 61
16085267 2005
38
Comparison of the tyrosine aminotransferase cDNA and genomic DNA sequences of normal mink and mink affected with tyrosinemia type II. 61
15817712 2005
39
[Tyrosinemia type II. Case report]. 61
16050420 2005
40
Extreme microglossia. 61
12697349 2003
41
Report of a patient with hypoglossia-hypodactylia syndrome and a review of the literature. 61
12605528 2003
42
[Johann Friedrich Meckel the Younger (1781-1833) and modern teratology]. 61
12489337 2002
43
[Hypoglossia-hypodactylia]. 61
11462717 2001
44
Oromandibular-limb hypogenesis syndromes: a case of aglossia with an intraoral band. 61
9849371 1998
45
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II. 61
9544843 1998
46
Richner-Hanhart syndrome: importance of early diagnosis and early intervention. 61
8912606 1996
47
CVS-exposed limb deficiency defects with or without other birth defects: presentation of six cases born during a period of nine years. 61
8737650 1996
48
[Hypoglossia-hypodactylia syndrome: apropos of a case with maxillo-mandibular synostosis, glossopalatine ankylosis and cleft palate]. 61
8785561 1996
49
Case report: hypoglossia-hypodactylia syndrome. 61
8707940 1996
50
Familial richner-Hanhart syndrome in Kuwait: twelve-year clinical reassessment by a multidisciplinary approach. 61
8546145 1995

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

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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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