MCID: CHN064
MIFTS: 22

Chondrodysplasia-Pseudohermaphroditism Syndrome

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Chondrodysplasia-Pseudohermaphroditism Syndrome

MalaCards integrated aliases for Chondrodysplasia-Pseudohermaphroditism Syndrome:

Name: Chondrodysplasia-Pseudohermaphroditism Syndrome 57 12
Chondrodysplasia-Disorder of Sex Development Syndrome 12 59
Nivelon-Nivelon-Mabille Syndrome 12 59
Nivelon Nivelon Mabille Syndrome 44 73

Characteristics:

Orphanet epidemiological data:

59
chondrodysplasia-disorder of sex development syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
chondrodysplasia-pseudohermaphroditism syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Chondrodysplasia-Pseudohermaphroditism Syndrome

Disease Ontology : 12 A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia.

MalaCards based summary : Chondrodysplasia-Pseudohermaphroditism Syndrome, is also known as chondrodysplasia-disorder of sex development syndrome. An important gene associated with Chondrodysplasia-Pseudohermaphroditism Syndrome is HHAT (Hedgehog Acyltransferase). Affiliated tissues include bone, eye and brain, and related phenotypes are intellectual disability and macrotia

Description from OMIM: 600092

Related Diseases for Chondrodysplasia-Pseudohermaphroditism Syndrome

Symptoms & Phenotypes for Chondrodysplasia-Pseudohermaphroditism Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
cerebellar vermis hypoplasia

Head And Neck Eyes:
iris hypoplasia
optic disc coloboma

Growth Height:
dwarfism, severe antenatal

Genitourinary External Genitalia Female:
normal female genitalia

Skeletal:
chondrodysplasia

Laboratory Abnormalities:
46,xy karyotype (1 of 2 patients)

Skeletal Limbs:
micromelia

Skeletal Hands:
short metacarpals
short phalanges

Chest External Features:
narrow thorax

Chest Ribs Sternum Clavicles And Scapulae:
abnormal clavicles

Genitourinary Internal Genitalia Female:
normal female genitalia

Skeletal Spine:
trapezoid-shaped vertebral bodies


Clinical features from OMIM:

600092

Human phenotypes related to Chondrodysplasia-Pseudohermaphroditism Syndrome:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
3 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
4 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
5 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
6 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
7 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
8 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
9 chorioretinal coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000567
10 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
11 hypoplasia of the iris 59 32 frequent (33%) Frequent (79-30%) HP:0007676
12 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
13 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
14 abnormality of pelvic girdle bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002644
15 broad long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0005622
16 male pseudohermaphroditism 59 32 frequent (33%) Frequent (79-30%) HP:0000037
17 short metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010049
18 abnormality of the shoulder 59 32 hallmark (90%) Very frequent (99-80%) HP:0003043
19 miosis 59 32 frequent (33%) Frequent (79-30%) HP:0000616
20 brain very small 59 32 frequent (33%) Frequent (79-30%) HP:0001322
21 increased skull ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004330
22 short phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009803
23 abnormality of the clavicle 32 HP:0000889
24 cerebellar vermis hypoplasia 32 HP:0001320
25 bell-shaped thorax 32 HP:0001591
26 coloboma 32 HP:0000589
27 trapezoidal shaped vertebral bodies 32 HP:0005621

Drugs & Therapeutics for Chondrodysplasia-Pseudohermaphroditism Syndrome

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia-Pseudohermaphroditism Syndrome

Cochrane evidence based reviews: nivelon nivelon mabille syndrome

Genetic Tests for Chondrodysplasia-Pseudohermaphroditism Syndrome

Anatomical Context for Chondrodysplasia-Pseudohermaphroditism Syndrome

MalaCards organs/tissues related to Chondrodysplasia-Pseudohermaphroditism Syndrome:

41
Bone, Eye, Brain

Publications for Chondrodysplasia-Pseudohermaphroditism Syndrome

Variations for Chondrodysplasia-Pseudohermaphroditism Syndrome

Expression for Chondrodysplasia-Pseudohermaphroditism Syndrome

Search GEO for disease gene expression data for Chondrodysplasia-Pseudohermaphroditism Syndrome.

Pathways for Chondrodysplasia-Pseudohermaphroditism Syndrome

GO Terms for Chondrodysplasia-Pseudohermaphroditism Syndrome

Sources for Chondrodysplasia-Pseudohermaphroditism Syndrome

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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