... Rothmund-Thomson syndrome is also characterized by sparse hair, eyebrows, and ... including absent or malformed bones, fused bones, and low bone ...

... sex characteristics, such as the growth of facial hair and deepening of the ... absent (anosmia). This feature distinguishes Kallmann syndrome from most ...

... of puberty, such as genital growth and pubic hair, between the ages of 2 and 5. The ... developed or absent Leydig cells and impaired production of testosterone. A ...

... inner ear, stereocilia project from certain cells called hair cells. The stereocilia ... absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental ...

... widely spaced teeth, delayed eruption of teeth, and absent teeth (hypodontia). Most affected males have undescended testes ( ...

... not show signs and symptoms of the condition. Absent corpus callosum cataract immunodeficiency Corpus callosum agenesis-cataract- ... Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum Genetic Testing Registry: Vici syndrome Vici ...

... also have nipples that are underdeveloped (hypothelia) or absent (athelia). In some cases the underlying breast tissue is absent as well (amastia).Other features that can occur ...

... severe to profound. Speech is often limited or absent in people with this condition.Pallister-Killian mosaic ... children with Pallister-Killian mosaic syndrome have sparse hair on their heads, particularly around the temples. These ...

... males, the mutations result in poorly developed or absent Leydig cells and impaired production of testosterone. A ... normal female genitalia and normal breast and pubic hair development, but they may begin menstruation later than ...

... and their ability to speak is delayed or absent. Development of motor skills, such as rolling over, ... genitals and urinary tract (genitourinary tract), skin, and hair. SATB2-associated syndrome is a rare condition. Its ...