MCID: BRC121
MIFTS: 20

Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Brachydactyly, Type A1, with Short Stature, Scoliosis,...

MalaCards integrated aliases for Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation:

Name: Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 58 74
Tsukahara Syndrome 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Brachydactyly, Type A1, with Short Stature, Scoliosis,...

MalaCards based summary : Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation, also known as tsukahara syndrome, is related to radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation and radioulnar synostosis-microcephaly-scoliosis syndrome. Affiliated tissues include bone, and related phenotypes are ptosis and intellectual disability

Description from OMIM: 613627

Related Diseases for Brachydactyly, Type A1, with Short Stature, Scoliosis,...

Diseases related to Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 11.9
2 radioulnar synostosis-microcephaly-scoliosis syndrome 11.9
3 synostosis 10.2
4 microcephaly 10.2
5 scoliosis 10.2
6 radioulnar synostosis 10.0
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
8 brachydactyly 10.0
9 ptosis 10.0
10 congenital radioulnar synostosis 10.0

Graphical network of the top 20 diseases related to Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation:



Diseases related to Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation

Symptoms & Phenotypes for Brachydactyly, Type A1, with Short Stature, Scoliosis,...

Human phenotypes related to Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 intellectual disability 33 HP:0001249
3 scoliosis 33 HP:0002650
4 chronic otitis media 33 HP:0000389
5 microcephaly 33 HP:0000252
6 short stature 33 HP:0004322
7 epicanthus 33 HP:0000286
8 small nail 33 HP:0001792
9 upslanted palpebral fissure 33 HP:0000582
10 brachydactyly 33 HP:0001156
11 bulbous nose 33 HP:0000414
12 short metatarsal 33 HP:0010743
13 short middle phalanx of finger 33 HP:0005819
14 aplasia/hypoplasia of toe 33 HP:0001991
15 mixed hearing impairment 33 HP:0000410
16 short proximal phalanx of finger 33 HP:0010241

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
epicanthic folds
upslanting palpebral fissures

Head And Neck Head:
microcephaly

Head And Neck Nose:
bulbous nose

Neurologic Central Nervous System:
mental retardation

Skeletal Limbs:
shortening of long bones

Skeletal Feet:
sandal-toe gap between great and second toe
short and hypoplastic metatarsals and phalanges of the great toes
symphalangism between middle and distal phalanges of second through fifth toes

Skeletal Spine:
scoliosis

Growth Height:
short stature

Skin Nails Hair Nails:
hypoplastic nails

Head And Neck Ears:
hearing loss, mixed
otitis media, chronic

Skeletal Hands:
short proximal phalanges of thumbs
short middle phalanges of second through fifth fingers
symphalangism of middle and distal phalanges of fifth finger

Clinical features from OMIM:

613627

Drugs & Therapeutics for Brachydactyly, Type A1, with Short Stature, Scoliosis,...

Search Clinical Trials , NIH Clinical Center for Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation

Genetic Tests for Brachydactyly, Type A1, with Short Stature, Scoliosis,...

Anatomical Context for Brachydactyly, Type A1, with Short Stature, Scoliosis,...

MalaCards organs/tissues related to Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation:

42
Bone

Publications for Brachydactyly, Type A1, with Short Stature, Scoliosis,...

Articles related to Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation:

# Title Authors Year
1
A family with radio-ulnar synostosis, scoliosis, and thick vermilion of lips: a novel syndrome or variant of Giuffrè-Tsukahara syndrome? ( 22786695 )
2012
2
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis. ( 20358606 )
2010
3
Tsukahara syndrome established as specific diagnosis. ( 20358586 )
2010
4
Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review. ( 20635354 )
2010
5
Clinical delineation of Giuffrè-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance. ( 18449925 )
2008
6
Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation. ( 9880222 )
1998

Variations for Brachydactyly, Type A1, with Short Stature, Scoliosis,...

Expression for Brachydactyly, Type A1, with Short Stature, Scoliosis,...

Search GEO for disease gene expression data for Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation.

Pathways for Brachydactyly, Type A1, with Short Stature, Scoliosis,...

GO Terms for Brachydactyly, Type A1, with Short Stature, Scoliosis,...

Sources for Brachydactyly, Type A1, with Short Stature, Scoliosis,...

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
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