CDP-PBHM
MCID: CHN050
MIFTS: 24

Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia (CDP-PBHM)

Categories: Bone diseases, Fetal diseases, 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 58 76 30 13 6
Chondrodysplasia, with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 41
X-Linked Dominant Chondrodysplasia-Hydrocephaly-Microphthalmia Syndrome 60
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type 60
Cdp-Pbhm 76

Characteristics:

Orphanet epidemiological data:

60
x-linked dominant chondrodysplasia, chassaing-lacombe type
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia:
Clinical modifier death in infancy
Inheritance x-linked dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 10.5
2 microphthalmia 10.5

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

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

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
2 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
3 hydrocephalus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000238
4 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
5 platyspondyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000926
6 short palm 60 33 hallmark (90%) Very frequent (99-80%) HP:0004279
7 short foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001773
8 depressed nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000457
9 microphthalmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000568
10 hypoplastic iliac wing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002866
11 metaphyseal chondrodysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005871
12 metaphyseal cupping of metacarpals 60 33 hallmark (90%) Very frequent (99-80%) HP:0006028
13 rhizomelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008905
14 intellectual disability, mild 60 33 frequent (33%) Frequent (79-30%) HP:0001256
15 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
16 thin ribs 60 33 frequent (33%) Frequent (79-30%) HP:0000883
17 abnormality of the calcaneus 60 33 frequent (33%) Frequent (79-30%) HP:0008364
18 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
19 hyperkeratosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000962
20 cerebellar hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001321
21 wide mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000154
22 short philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000322
23 11 pairs of ribs 33 occasional (7.5%) HP:0000878
24 macrocephaly 33 HP:0000256
25 short stature 60 Very frequent (99-80%)
26 death in infancy 60 Frequent (79-30%)
27 decreased skull ossification 33 HP:0004331
28 distal shortening of limbs 33 HP:0006402
29 metaphyseal cupping of proximal phalanges 33 HP:0006208
30 hypoplasia of the calcaneus 33 HP:0012789

Symptoms via clinical synopsis from OMIM:

58
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

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 30 HDAC6

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

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

42
Bone

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

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

# Title Authors Year
1
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia. ( 20181727 )
2010
2
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,...

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75 UMLS via Orphanet
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