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Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.
Features include common findings: Mild intellectual disability, Delayed skeletal maturation, Spina bifida occulta, and Short neck and others; and sometimes findings: Micropenis. 39 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 5 | Delayed skeletal maturation, Joint contracture of the hand, Thickened cortex of long bones |
Phenotype severity distribution: 26 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:31 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Arms and legs |
4 |
Joint contracture of the hand, Short foot, Distal shortening of limbs |
Brain and nerves | 3 | Mild intellectual disability, Global developmental delay, Depressed nasal tip |
Muscles | 3 | Low muscle tone (hypotonia), Generalized hypotonia, Joint contracture of the hand |
Head and neck | 2 | Flat face, Facial asymmetry |