Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia describes a rare, congenital (present at birth) combination of problems: a progressive ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Camptodactyly means a finger (usually the little finger) is stuck in a bent position at the middle (PIP) joint from birth or early childhood. In “camptodactyly ...
Camptodactyly syndrome, Guadalajara type 3 is a very rare genetic disorder in which the fingers are bent and cannot fully straighten (camptodactyly), together ...
Camptodactyly syndrome, Guadalajara type 2 is a very rare condition present at birth. Children are small for age, both before and after birth. They often have ...
Camptodactyly syndrome, Guadalajara type 1 (often shortened to “Guadalajara type 1”) is a very rare, inherited condition in which a child is born with fingers ...
Camptodactyly means a finger that stays bent at the middle joint (the proximal interphalangeal, or PIP joint) and cannot fully straighten on its own. It is ...
Camptobrachydactyly is a very rare condition in which people have short fingers or toes (brachydactyly) together with fixed bending (flexion contractures) of ...
Campomelic dwarfism syndrome is a rare genetic condition that mainly affects the skeleton, breathing system, and sexual development. The word “campomelic” ...
Campomelic dysplasia (CD) is a rare, genetic condition that affects the bones, the face, the airway, and the sex-development system. Babies are born with short ...
Campomelia, Cumming type is a very rare genetic condition in which a baby has bowed or curved long bones in all four limbs (tetramelic campomelia) together ...
Spinocerebellar Ataxia, Autosomal Recessive 5 is a very rare, inherited brain disorder that mainly damages the cerebellum (the balance and coordination ...
Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome is a rare, inherited brain-development disorder. Children are born with ...
CAMOS syndrome is a very rare genetic condition. The name comes from its main signs: Cerebellar Ataxia, Mental (intellectual) disability, Optic atrophy, and ...
Familial doughnut lesions of the skull are round, ring-like spots in the skull bones that look like a “doughnut” on X-rays. Many affected people also have weak ...
Doughnut lesion of the calvaria and bone fragility syndrome is a rare, inherited bone disease. It causes ring-shaped, sclerotic spots in the skull bones that ...
Calvarial doughnut lesions with bone fragility, with or without spondylometaphyseal dysplasia (CDL/CDLSMD) is a genetic bone disease. People are born with a ...
