MCID: ULN023
MIFTS: 24

Ulnar Hypoplasia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ulnar Hypoplasia

MalaCards integrated aliases for Ulnar Hypoplasia:

Name: Ulnar Hypoplasia 57 72
Upper Limb Mesomelic Dysplasia 57 59
Fryns-Hofkens-Fabry Syndrome 59
Hypoplasia of the Ulna 29
Ulna Hypoplasia 59

Characteristics:

Orphanet epidemiological data:

59
upper limb mesomelic dysplasia
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ulnar hypoplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 191440
ICD10 via Orphanet 34 Q78.8
UMLS via Orphanet 73 C1860614
Orphanet 59 ORPHA2497
MedGen 42 C1860614
UMLS 72 C1860614

Summaries for Ulnar Hypoplasia

MalaCards based summary : Ulnar Hypoplasia, also known as upper limb mesomelic dysplasia, is related to ulnar hypoplasia with lobster-claw deformity of feet and ulnar hypoplasia with mental retardation. An important gene associated with Ulnar Hypoplasia is NFIX (Nuclear Factor I X). Affiliated tissues include bone, heart and bone marrow, and related phenotypes are ulnar deviation of finger and hypoplasia of the ulna

More information from OMIM: 191440

Related Diseases for Ulnar Hypoplasia

Graphical network of the top 20 diseases related to Ulnar Hypoplasia:



Diseases related to Ulnar Hypoplasia

Symptoms & Phenotypes for Ulnar Hypoplasia

Human phenotypes related to Ulnar Hypoplasia:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ulnar deviation of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009465
2 hypoplasia of the ulna 59 32 hallmark (90%) Very frequent (99-80%) HP:0003022
3 radial bowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002986
4 hypoplasia of the radius 32 HP:0002984
5 mesomelic arm shortening 32 HP:0005011
6 ulnar deviation of the hand 32 HP:0009487
7 distal ulnar hypoplasia 32 HP:0005033
8 dysplastic radii 32 HP:0006433

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
ulnar deviation of hands

Skeletal Limbs:
mesomelia, severe (arms only)
ulnar hypoplasia, distal
radial bowing, severe (adult)
short, dysplastic radii
short, dysplastic ulnae

Clinical features from OMIM:

191440

Drugs & Therapeutics for Ulnar Hypoplasia

Search Clinical Trials , NIH Clinical Center for Ulnar Hypoplasia

Genetic Tests for Ulnar Hypoplasia

Genetic tests related to Ulnar Hypoplasia:

# Genetic test Affiliating Genes
1 Hypoplasia of the Ulna 29

Anatomical Context for Ulnar Hypoplasia

MalaCards organs/tissues related to Ulnar Hypoplasia:

41
Bone, Heart, Bone Marrow

Publications for Ulnar Hypoplasia

Articles related to Ulnar Hypoplasia:

(show all 21)
# Title Authors PMID Year
1
Severe autosomal dominant upper-limb mesomelic dysplasia: report of a second family. 38 8
16283892 2005
2
Isolated mesomelic shortening of the forearm in father and daughter: a new entity in the group of mesomelic dysplasias. 8
3342548 1988
3
Ulnar aplasia, dysplastic radius and preaxial oligodactyly: Rare longitudinal limb defect in a sporadic male child. 38
24381628 2013
4
Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3. 38
23342975 2013
5
TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype. 38
22333898 2012
6
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. 38
22226660 2012
7
[Thalidomide (Contergan) induced limb deficiency in Hungary?]. 38
19497840 2009
8
Ulnar hypoplasia and neurofibromatosis type I. 38
15580221 2004
9
Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome. 38
14564152 2003
10
Radiological findings in three cases of paraxial radial hemimelia in goats. 38
12399612 2002
11
Proximal focal femoral deficiency, contralateral hip dysplasia in association with contralateral ulnar hypoplasia and clefthand: a case report and review of literatures of PFFD and/or FFU. 38
11732209 2001
12
Overlap between Baller-Gerold and Rothmund-Thomson syndrome. 38
11045594 2000
13
Multiple congenital synostosis of the upper limb associated with ulnar hypoplasia and cleft hand. A case report. 38
8739706 1996
14
Bilateral ulna hypoplasia, club feet, and mental retardation: a new mesomelic syndrome. 38
7625433 1995
15
Peters' anomaly and associated congenital malformations. 38
1463415 1992
16
Humero-radial synostosis with ulnar defects in sibs. 38
2669480 1989
17
Radial agenesis and ulnar hypoplasia in two caprine kids. 38
3972675 1985
18
Constricted maxilla and mandible, scoliosis, bowed radii, ulnar hypoplasia, acromicria and microcephaly with mental retardation--a new autosomal recessive syndrome? 38
7139102 1982
19
The WT syndrome--a "new" autosomal dominant pleiotropic trait of radial/ulnar hypoplasia with high risk of bone marrow failure and/or leukemia. 38
890097 1977
20
Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder. 38
1218241 1975
21
[Fibulo-ulnar hypoplasia with spherical ankle joint, radiation defects and synostoses]. 38
4245894 1970

Variations for Ulnar Hypoplasia

Expression for Ulnar Hypoplasia

Search GEO for disease gene expression data for Ulnar Hypoplasia.

Pathways for Ulnar Hypoplasia

GO Terms for Ulnar Hypoplasia

Sources for Ulnar Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
46 MGI
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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