MCID: APH014
MIFTS: 16

Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Aphalangia, Partial, with Syndactyly and Duplication of...

MalaCards integrated aliases for Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv:

Name: Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 57
Aphalangia Partial with Syndactyly and Duplication of Metatarsal Iv 53
Aphalangy-Syndactyly-Microcephaly Syndrome 59

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
?autosomal dominant
?autosomal recessive

Miscellaneous:
three families have been reported (last curated november 2010)
the mode of inheritance is unclear


HPO:

32
aphalangia, partial, with syndactyly and duplication of metatarsal iv:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600384
Orphanet 59 ORPHA1113
ICD10 via Orphanet 34 Q87.2
UMLS via Orphanet 74 C1838161
MedGen 42 C1838161

Summaries for Aphalangia, Partial, with Syndactyly and Duplication of...

MalaCards based summary : Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv, is also known as aphalangia partial with syndactyly and duplication of metatarsal iv. Affiliated tissues include bone, and related phenotypes are microcephaly and short stature

Description from OMIM: 600384

Related Diseases for Aphalangia, Partial, with Syndactyly and Duplication of...

Symptoms & Phenotypes for Aphalangia, Partial, with Syndactyly and Duplication of...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
cognitive deficits

Skeletal Spine:
kyphoscoliosis (1 patient)

Skin Nails Hair Nails:
hypoplastic nails of affected digits

Skeletal Feet:
cutaneous syndactyly
duplication of metacarpal iv
absent/hypoplastic toes
normal great toes

Growth Height:
short stature (reported in 2 families)

Skeletal Hands:
partial distal aphalangia

Hematology:
sinovenous thrombosis (in one patient)


Clinical features from OMIM:

600384

Human phenotypes related to Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
2 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
3 hypoplastic toenails 59 32 frequent (33%) Frequent (79-30%) HP:0001800
4 abnormality of the metacarpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0001163
5 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
6 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
7 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001770
8 symphalangism affecting the phalanges of the hand 59 32 frequent (33%) Frequent (79-30%) HP:0009773
9 hypoplastic fingernail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001804
10 postaxial foot polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001830
11 split foot 59 32 frequent (33%) Frequent (79-30%) HP:0001839
12 absent toenail 59 32 frequent (33%) Frequent (79-30%) HP:0001802
13 aplasia/hypoplasia of the distal phalanges of the toes 59 32 hallmark (90%) Very frequent (99-80%) HP:0010185
14 intellectual disability 32 HP:0001249
15 cognitive impairment 32 HP:0100543
16 anonychia 59 Frequent (79-30%)
17 cutaneous finger syndactyly 32 HP:0010554
18 kyphoscoliosis 32 occasional (7.5%) HP:0002751
19 syndactyly 32 HP:0001159
20 aplasia/hypoplasia of toe 32 HP:0001991
21 duplication of metatarsal bones 32 HP:0001449

Drugs & Therapeutics for Aphalangia, Partial, with Syndactyly and Duplication of...

Search Clinical Trials , NIH Clinical Center for Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv

Genetic Tests for Aphalangia, Partial, with Syndactyly and Duplication of...

Anatomical Context for Aphalangia, Partial, with Syndactyly and Duplication of...

MalaCards organs/tissues related to Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv:

41
Bone

Publications for Aphalangia, Partial, with Syndactyly and Duplication of...

Variations for Aphalangia, Partial, with Syndactyly and Duplication of...

Expression for Aphalangia, Partial, with Syndactyly and Duplication of...

Search GEO for disease gene expression data for Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv.

Pathways for Aphalangia, Partial, with Syndactyly and Duplication of...

GO Terms for Aphalangia, Partial, with Syndactyly and Duplication of...

Sources for Aphalangia, Partial, with Syndactyly and Duplication of...

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
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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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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