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 58
Aphalangia Partial with Syndactyly and Duplication of Metatarsal Iv 54
Aphalangy-Syndactyly-Microcephaly Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
aphalangy-syndactyly-microcephaly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
?autosomal dominant
?autosomal recessive

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


HPO:

33
aphalangia, partial, with syndactyly and duplication of metatarsal iv:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 600384
ICD10 via Orphanet 35 Q87.2
UMLS via Orphanet 75 C1838161
Orphanet 60 ORPHA1113
MedGen 43 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...

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

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
2 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
3 short distal phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009882
4 hypoplastic fingernail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001804
5 aplasia/hypoplasia of the distal phalanges of the toes 60 33 hallmark (90%) Very frequent (99-80%) HP:0010185
6 hypoplastic toenails 60 33 frequent (33%) Frequent (79-30%) HP:0001800
7 abnormality of the metacarpal bones 60 33 frequent (33%) Frequent (79-30%) HP:0001163
8 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
9 toe syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001770
10 symphalangism affecting the phalanges of the hand 60 33 frequent (33%) Frequent (79-30%) HP:0009773
11 postaxial foot polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001830
12 split foot 60 33 frequent (33%) Frequent (79-30%) HP:0001839
13 absent toenail 60 33 frequent (33%) Frequent (79-30%) HP:0001802
14 kyphoscoliosis 33 occasional (7.5%) HP:0002751
15 intellectual disability 33 HP:0001249
16 cognitive impairment 33 HP:0100543
17 anonychia 60 Frequent (79-30%)
18 cutaneous finger syndactyly 33 HP:0010554
19 syndactyly 33 HP:0001159
20 aplasia/hypoplasia of toe 33 HP:0001991
21 duplication of metatarsal bones 33 HP:0001449

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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46 MESH via Orphanet
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50 NCI
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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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