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MCID: CMP071
MIFTS: 20
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Camptodactyly Syndrome, Guadalajara, Type Ii
Categories:
Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Camptodactyly Syndrome, Guadalajara, Type Ii:
Name: Camptodactyly Syndrome, Guadalajara, Type Ii
57
Characteristics:Orphanet epidemiological data:58
camptodactyly syndrome, guadalajara type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Bone diseases Neuronal diseases
ICD10:
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1326 Definition Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.
MalaCards based summary : Camptodactyly Syndrome, Guadalajara, Type Ii, also known as camptodactyly syndrome guadalajara type 2, is related to pectus excavatum and microcephaly. Affiliated tissues include bone, and related phenotypes are microcephaly and short stature
More information from OMIM:
211920
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Diseases in the Camptodactyly Syndrome, Guadalajara, Type I family:
Diseases related to Camptodactyly Syndrome, Guadalajara, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Camptodactyly Syndrome, Guadalajara, Type Ii:
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Human phenotypes related to Camptodactyly Syndrome, Guadalajara, Type Ii:58 31 (show all 28)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:211920 (Updated 20-May-2021) |
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MalaCards organs/tissues related to Camptodactyly Syndrome, Guadalajara, Type Ii:40
Bone
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Articles related to Camptodactyly Syndrome, Guadalajara, Type Ii:
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Search
GEO
for disease gene expression data for Camptodactyly Syndrome, Guadalajara, Type Ii.
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