ACPS4
MCID: ACR108
MIFTS: 22

Acrocephalopolysyndactyly Type Iv (ACPS4)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Acrocephalopolysyndactyly Type Iv

MalaCards integrated aliases for Acrocephalopolysyndactyly Type Iv:

Name: Acrocephalopolysyndactyly Type Iv 57 73
Goodman Syndrome 57 53 59
Acrocephalopolysyndactyly Type 4 53 59
Goodman Camptodactyly 53
Acps Iv 57
Acps 4 53
Acps4 59

Characteristics:

Orphanet epidemiological data:

59
goodman syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
acrocephalopolysyndactyly type iv:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 201020
Orphanet 59 ORPHA65798
UMLS via Orphanet 74 C0265303
ICD10 via Orphanet 34 Q87.0
MedGen 42 C0265303
UMLS 73 C0265303

Summaries for Acrocephalopolysyndactyly Type Iv

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 65798Disease definitionGoodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.Visit the Orphanet disease page for more resources.

MalaCards based summary : Acrocephalopolysyndactyly Type Iv, also known as goodman syndrome, is related to rozin hertz goodman syndrome and theodor hertz goodman syndrome. Affiliated tissues include heart, bone and skin, and related phenotypes are clinodactyly and hand polydactyly

Description from OMIM: 201020

Related Diseases for Acrocephalopolysyndactyly Type Iv

Diseases in the Acrocephalopolysyndactyly Type Iii family:

Acrocephalopolysyndactyly Type Iv

Diseases related to Acrocephalopolysyndactyly Type Iv via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rozin hertz goodman syndrome 12.1
2 theodor hertz goodman syndrome 12.1
3 fanconi anemia, complementation group e 11.7
4 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia 11.3
5 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 11.2
6 ichthyosis--cheek--eyebrow syndrome 11.0
7 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 11.0
8 carpenter syndrome 1 10.0

Graphical network of the top 20 diseases related to Acrocephalopolysyndactyly Type Iv:



Diseases related to Acrocephalopolysyndactyly Type Iv

Symptoms & Phenotypes for Acrocephalopolysyndactyly Type Iv

Symptoms via clinical synopsis from OMIM:

57
Limbs:
clinodactyly
camptodactyly
syndactyly
polydactyly
ulnar deviation

Skull:
acrocephaly


Clinical features from OMIM:

201020

Human phenotypes related to Acrocephalopolysyndactyly Type Iv:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 32 HP:0030084
2 hand polydactyly 32 HP:0001161
3 radial deviation of finger 32 HP:0009466
4 camptodactyly 32 HP:0012385
5 syndactyly 32 HP:0001159
6 joint contracture of the hand 32 HP:0009473
7 oxycephaly 32 HP:0000263
8 ulnar deviation of the hand or of fingers of the hand 32 HP:0001193

Drugs & Therapeutics for Acrocephalopolysyndactyly Type Iv

Search Clinical Trials , NIH Clinical Center for Acrocephalopolysyndactyly Type Iv

Genetic Tests for Acrocephalopolysyndactyly Type Iv

Anatomical Context for Acrocephalopolysyndactyly Type Iv

MalaCards organs/tissues related to Acrocephalopolysyndactyly Type Iv:

41
Heart, Bone, Skin, Eye

Publications for Acrocephalopolysyndactyly Type Iv

Variations for Acrocephalopolysyndactyly Type Iv

Expression for Acrocephalopolysyndactyly Type Iv

Search GEO for disease gene expression data for Acrocephalopolysyndactyly Type Iv.

Pathways for Acrocephalopolysyndactyly Type Iv

GO Terms for Acrocephalopolysyndactyly Type Iv

Sources for Acrocephalopolysyndactyly Type Iv

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
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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