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 56
Aphalangia Partial with Syndactyly and Duplication of Metatarsal Iv 52
Aphalangy-Syndactyly-Microcephaly Syndrome 58

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
?autosomal dominant
?autosomal recessive

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


HPO:

31
aphalangia, partial, with syndactyly and duplication of metatarsal iv:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 600384
ICD10 via Orphanet 33 Q87.2
UMLS via Orphanet 72 C1838161
Orphanet 58 ORPHA1113
MedGen 41 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

More information 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:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
4 hypoplastic fingernail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001804
5 aplasia/hypoplasia of the distal phalanges of the toes 58 31 hallmark (90%) Very frequent (99-80%) HP:0010185
6 hypoplastic toenails 58 31 frequent (33%) Frequent (79-30%) HP:0001800
7 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
8 symphalangism affecting the phalanges of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009773
9 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
10 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
11 postaxial foot polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001830
12 split foot 58 31 frequent (33%) Frequent (79-30%) HP:0001839
13 absent toenail 58 31 frequent (33%) Frequent (79-30%) HP:0001802
14 kyphoscoliosis 31 occasional (7.5%) HP:0002751
15 intellectual disability 31 HP:0001249
16 cognitive impairment 31 HP:0100543
17 cutaneous finger syndactyly 31 HP:0010554
18 anonychia 58 Frequent (79-30%)
19 aplasia/hypoplasia of toe 31 HP:0001991
20 syndactyly 31 HP:0001159
21 duplication of metatarsal bones 31 HP:0001449

Symptoms via clinical synopsis from OMIM:

56
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:

40
Bone

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

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

# Title Authors PMID Year
1
Partial distal aphalangia, duplication of metatarsal IV, microcephaly, and borderline intelligence: a fourth patient with parental consanguinity and additional feature of massive cerebral thrombosis. 56
25304118 2015
2
Partial distal aphalangia, duplication of metatarsal IV, microcephaly and borderline intelligence: a third patient suggesting autosomal recessive inheritance. 56
19449409 2009
3
Distal aphalangia, an extra metatarsal, short stature and microcephaly: a second case. 56
12401998 2002
4
Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder. 56
7717420 1995

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
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10 dbSNP
11 DGIdb
17 EFO
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19 FMA
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32 ICD10
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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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