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 ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
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 ...
Calvarial doughnut lesions–bone fragility syndrome is a rare, inherited bone disease. Bones break easily from childhood. The skull shows small round ...
Calciphylaxis is a rare but very serious disease of small blood vessels in the skin and fat. Calcium builds up in the walls of tiny arterioles. The vessels ...
Synostosis means two bones that should be separate have become joined by solid bone. This makes the joint between them disappear, so the bones act like one. ...
A calcaneonavicular coalition is an abnormal bridge between two foot bones: the calcaneus (heel bone) and the navicular (a small bone in the midfoot). In most ...
Calabro syndrome is a very rare birth condition. Babies are born with a combination of features that often include: the skull bones close too early ...
“NF type 6” (older name) or café-au-lait spots syndrome / familial isolated café-au-lait macules is a skin-only condition. People have several flat, ...
Multiple Flat Light-Brown Marks on Skin are harmless areas of increased skin pigment (melanin) that look like smooth-edged, flat, light-brown patches. They can ...
Multiple birthmarks means a person has more than one mark on the skin that was present at birth or appeared in the first years of life. Birthmarks can be ...
Familial isolated café-au-lait macules are flat, light- to dark-brown skin patches that run in families and appear without other signs of a syndrome. ...
Café-au-lait macules (CALMs) are flat, sharply bordered, light- to dark-brown skin patches caused by increased melanin in the epidermis. They are usually ...
Café-au-lait spots (CALMs) are flat, light- to dark-brown skin patches. They look like milk mixed with coffee. They can be round or oval. Edges are smooth or ...
Zellweger-like contiguous gene deletion syndrome is a very rare, inherited condition that affects newborns and young infants. It happens when a small stretch ...
