Richieri-Costa–Colletto syndrome.” In current medical references this name is used as a synonym for Acro-fronto-facio-nasal dysostosis (AFFND)—an extremely ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Acrofrontofacionasal dysostosis is a very rare, present-from-birth (congenital) condition. It mainly affects the face, skull, and bones of the arms and legs. ...
Weyers acrofacial dysostosis is a rare birth condition. It mainly affects the teeth, the fingernails and toenails, and sometimes the shape and number of ...
Weyers acrodental dysostosis is a very rare, inherited condition that mostly affects the teeth, nails, and the ends of the hands and feet. Children and adults ...
Curry-Hall syndrome is a rare genetic condition that affects the teeth, nails, fingers and toes, and facial bones. Many people have small or missing teeth, ...
Kennedy-Teebi syndrome is a very rare birth condition that affects the face and the limbs (hands and feet). Doctors also call it “acrofacial dysostosis, ...
Opitz-Caltabiano syndrome is a very rare condition present from birth. It mainly affects the face, jaws, teeth, hands and feet, height, and learning. Babies ...
Opitz Mollica Sorge syndrome is a very rare, inherited condition that affects the face, jaws, teeth, hands/feet, and growth. Babies may be small before birth ...
Rodriguez syndrome—also called Rodríguez acrofacial dysostosis—is a very rare genetic condition present from birth. It mainly affects how the face, jaw, and ...
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. ...
