Tel Hashomer camptodactyly syndrome

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Tel Hashomer camptodactyly syndrome

ORPHA:3292Malformation syndrome

Also called Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome

What it is

Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.

Key facts

Prevalence
<1 / 1 000 000 (Europe)
Age of onset
Infancy, Neonatal
Inheritance
Unknown
Classified as
Malformation syndrome

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

ICD-10 codes

Q74.0filed under a broader ICD-10 category — shared with 17 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references

GARD 5128MESH C536953MONDO 0008901OMIM 211960UMLS C1859356

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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