MCID: CHN050
MIFTS: 24

Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

MalaCards integrated aliases for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia:

Name: Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 57 75 29 6
Chondrodysplasia, with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 40
X-Linked Dominant Chondrodysplasia-Hydrocephaly-Microphthalmia Syndrome 59
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type 59
Cdp-Pbhm 75

Characteristics:

Orphanet epidemiological data:

59
x-linked dominant chondrodysplasia, chassaing-lacombe type
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
x-linked dominant

Miscellaneous:
carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation)
based on one report of a 4-generation family with 4 affected males and 6 affected females


HPO:

32
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia:
Mortality/Aging death in infancy
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

UniProtKB/Swiss-Prot : 75 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia: A disease characterized by chondrodysplasia, severe platyspondyly, hydrocephaly, and facial features with microphthalmia. Bone abnormalities include a distinctive metaphyseal cupping of the metacarpals, metatarsals, and phalanges. Affected females show a milder phenotype with small stature, sometimes associated with body asymmetry and mild mental retardation.

MalaCards based summary : Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia, also known as chondrodysplasia, with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, is related to brachydactyly and microphthalmia. An important gene associated with Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia is HDAC6 (Histone Deacetylase 6). Affiliated tissues include bone, and related phenotypes are low-set ears and frontal bossing

Description from OMIM: 300863

Related Diseases for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

Diseases related to Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachydactyly 10.4
2 microphthalmia 10.4

Symptoms & Phenotypes for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
hydrocephaly

Head And Neck Ears:
low-set ears

Head And Neck Nose:
short nose
flat nose

Growth Other:
intrauterine growth retardation

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs
11 pairs of ribs (in some male patients)

Skeletal Spine:
platyspondyly, severe

Skeletal Limbs:
rhizomelic shortening (in carrier females)

Neurologic Central Nervous System:
mental retardation, mild (in some females)

Skeletal Skull:
macrocephaly
poor mineralization of skull

Head And Neck Face:
frontal bossing

Growth Height:
short stature

Head And Neck Eyes:
microphthalmia

Skeletal Hands:
metaphyseal cupping of metacarpals
metaphyseal cupping of phalanges

Skeletal Pelvis:
hypoplasia of iliac wings (mild in carrier females)
poor ossification of pubis

Skeletal Feet:
metaphyseal cupping of phalanges
hypoplastic calcaneus
metaphyseal cupping of metatarsals


Clinical features from OMIM:

300863

Human phenotypes related to Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
2 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
3 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
4 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
5 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
6 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
7 hyperkeratosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000962
8 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000926
9 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
10 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
11 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
12 cerebellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001321
13 wide mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000154
14 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
15 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
16 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
17 thin ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000883
18 hypoplastic iliac wing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002866
19 metaphyseal chondrodysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005871
20 metaphyseal cupping of metacarpals 59 32 hallmark (90%) Very frequent (99-80%) HP:0006028
21 abnormality of the calcaneus 59 32 frequent (33%) Frequent (79-30%) HP:0008364
22 rhizomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008905
23 macrocephaly 32 HP:0000256
24 short stature 59 Very frequent (99-80%)
25 death in infancy 59 Frequent (79-30%)
26 decreased skull ossification 32 HP:0004331
27 11 pairs of ribs 32 occasional (7.5%) HP:0000878
28 distal shortening of limbs 32 HP:0006402
29 metaphyseal cupping of proximal phalanges 32 HP:0006208
30 hypoplasia of the calcaneus 32 HP:0012789

Drugs & Therapeutics for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia

Genetic Tests for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

Genetic tests related to Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia:

# Genetic test Affiliating Genes
1 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 29 HDAC6

Anatomical Context for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

MalaCards organs/tissues related to Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia:

41
Bone

Publications for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

Articles related to Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia:

# Title Authors Year
1
X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia. ( 16001442 )
2005

Variations for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

ClinVar genetic disease variations for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HDAC6 NM_006044.3(HDAC6): c.*282A> T single nucleotide variant Pathogenic rs398122390 GRCh37 Chromosome X, 48683304: 48683304
2 HDAC6 NM_006044.3(HDAC6): c.*282A> T single nucleotide variant Pathogenic rs398122390 GRCh38 Chromosome X, 48824894: 48824894

Expression for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

Search GEO for disease gene expression data for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia.

Pathways for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

GO Terms for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

Sources for Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly,...

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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33 ICD10
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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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