Acrofacial dysostosis is the name for a group of rare, inherited conditions that affect how the face and the limbs (arms, hands, legs, and feet) form before ...

Maroteaux-Lamy syndrome is a rare, inherited condition. The body is missing, or has very low, activity of a lysosomal enzyme called arylsulfatase B (also ...

Arkless–Graham syndrome is a very rare genetic condition. It affects how bones grow, especially the small bones of the hands, feet, and face. Children are born ...

Acrodysostosis is a very rare genetic bone growth disorder. “Genetic” means it is caused by a change in a gene. People with this condition have very short ...

Hereditary zinc deficiency is a disease where the body does not get enough zinc, or it cannot absorb zinc properly from food. Zinc is a small mineral that the ...

Kaplan-Plauchu-Fitch syndrome is an extremely rare genetic disorder that mainly affects the shape and growth of the skull and face, the ears and hearing ...

Acrocraniofacial dysostosis (often shortened to ACFD) is an extremely rare inherited condition that mainly affects how the skull, face, ears, and some bones of ...

Neuroectodermal melanolysosomal disease (NEMLD) — a rare, autosomal-recessive disorder with silvery hair, abnormal skin tanning, and severe brain/neurologic ...

Acrocephalopolydactylous dysplasia is a rare, inherited birth condition. The word “acrocephalo-” means a tall or cone-shaped head. This head shape usually ...

Acrocephalopolydactyly means a baby is born with a high, pointed head shape (called acrocephaly, which usually comes from early fusion of skull joints called ...

Cleft palate–cardiac defect–genital anomalies–ectrodactyly syndrome is a very rare genetic condition. It affects several parts of the body at the same time. ...

Cleft palate–cardiac defect–genital anomalies–ectrodactyly syndrome is a very rare genetic condition. It affects several parts of the body at the same time. ...

Acro-cardio-facial syndrome is a very rare genetic condition. Children born with ACFS usually have a special pattern of changes in three body areas: the hands ...

Acrocapitofemoral dysplasia (ACFD) is a very rare, inherited bone growth disorder. Children are usually born looking healthy, but as they grow they develop ...

Schinzel acrocallosal syndrome is a very rare genetic condition present from birth. The brain’s “bridge” that connects the left and right halves—the corpus ...

Acrocallosal syndrome (ACLS) is a very rare genetic condition. It mainly affects the brain and the hands and feet. The key brain change is that the corpus ...

Split hand/split foot–mandibular hypoplasia syndrome is a very rare birth condition. This syndrome is a birth-present (congenital) difference that mainly ...

Acro-renal-mandibular syndrome is a very rare condition that is present from birth. It affects three main body areas at the same time: the hands and feet ...

Acral self-healing collodion baby is a very rare newborn skin condition. A baby is born with a tight, shiny, transparent film called a collodion membrane, but ...

Localized deciduous skin” means a small area of skin that keeps peeling off or sheds in thin scales. It is a description, not a single disease. Many different ...