Results 1 -
10
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89
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ptosis OR hypothyroidism
- Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid ...
- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with ... narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of ...
- ... narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), highly arched eyebrows, and an opening in the ... Oculo-skeletal-abdominal syndrome Oculopalatoskeletal syndrome OSA syndrome Ptosis of eyelids with diastasis recti and hip dysplasia ...
- ... spaced eyes (hypertelorism), large eyelid openings, droopy eyelids (ptosis), high-arched eyebrows, a broad nasal bridge and ... type 3 Fryns-Aftimos syndrome Iris coloboma with ptosis, hypertelorism, and mental retardation Genetic Testing Registry: Baraitser- ...
- ... corner of the eyes (epicanthal folds), droopy eyelids (ptosis), and outside corners of the eyes that point ... show signs and symptoms of the condition. Blepharophimosis-ptosis-intellectual disability syndrome BPIDS KOS Oculocerebrofacial syndrome, Kaufman ...
- Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This ...
- ... least 10 TSHB gene mutations involved in congenital hypothyroidism, a condition characterized by abnormally low levels of ... a form of the condition called central congenital hypothyroidism, which occurs when stimulation of thyroid hormone production ...
- ... individuals have reduced thyroid function from birth (congenital hypothyroidism), resulting in lower-than-normal levels of thyroid ... have a milder condition called compensated or subclinical hypothyroidism, in which thyroid hormone levels are within the ...
- ... mutations have been identified in people with congenital hypothyroidism, a condition characterized by abnormally low levels of ... levels remain low, causing mild to severe congenital hypothyroidism. Impaired thyroid stimulating hormone receptors may also disrupt ...
- ... Mutations in the TG gene can cause congenital hypothyroidism, a condition characterized by abnormally low levels of ... not have other signs and symptoms of congenital hypothyroidism (described above). It is unclear why enlargement of ...