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Congenital defects
- Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which ...
- ... distinctive facial features, profound hearing loss, and hand abnormalities.The distinctive facial features of people with craniofacial- ... hand syndrome result from a variety of developmental abnormalities involving the skull (cranium) and face. Affected individuals ...
- ... characterized by short stature (dwarfism) with other skeletal abnormalities (osteodysplasia) and an unusually small head size (microcephaly). ... from 20 inches to 40 inches. Other skeletal abnormalities in MOPDII include abnormal development of the hip ...
- ... is a genetic disorder that typically features skin abnormalities and the premature fusion of certain bones of ... shaped skull, wide-set and bulging eyes, ear abnormalities, and an underdeveloped upper jaw. Early fusion of ...
- ... syndrome is a genetic disorder characterized by skeletal abnormalities. A key feature of Apert syndrome is the ... Apert syndrome have vision problems due to eye abnormalities, which can include bulging eyes (exophthalmos), wide-set ...
- Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also ...
- ... by problems with regulating body temperature and other abnormalities affecting many parts of the body. In infancy, ... difficulties, excessive drooling, and breathing problems. Other physical abnormalities associated with Crisponi syndrome include a scaly skin ...
- ... LOC) syndrome is a disorder that leads to abnormalities of the voicebox (laryngo-), finger- and toenails (onycho-), ... layers of skin or regulate wound healing. These abnormalities of laminin 332 cause the cutaneous erosions and ...
- ... skin (subcutaneous fat); wasting (atrophy) of muscles; dental abnormalities; excessive body hair growth (hirsutism); multiple cysts on ... Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities RMS Genetic Testing Registry: Rabson-Mendenhall syndrome Rabson- ...
- ... M syndrome is a disorder that causes skeletal abnormalities including short stature (dwarfism) and unusual facial features. ... a prominent mouth, and full lips.Other skeletal abnormalities that often occur in this disorder include a ...