Physical findings	Possible etiology
Short stature, obesity, hypogonadism	Prader-Willi syndrome
Microcephaly, macrocephaly	Mental retardation, cerebral palsy, hearing loss
Deformities of auricle or external ear canal	Hearing loss
Enlarged pinna, macroorchidism	Fragile X syndrome
Upward slanting eyes, Brushfield spots, epicanthic folds, brachycephaly, simian creases	Down syndrome
Goiter	Pendred syndrome
Café au lait spots	Neurofibromatosis
Adenoma sebaceum, shagreen patches, hypopigmented spots	Tuberous sclerosis
White forelock, cutaneous hypopigmentation, hypertelorism, heterochromia	Waardenburg syndrome
Retinitis pigmentosa, obesity, hypogonadism, polydactyly	Bardet-Biedl syndrome
Retinitis pigmentosa, cataracts	Usher syndrome
Chorioretinitis	Congenital toxoplasmosis, congenital cytomegalovirus
Lack of eye contact, stereotyped repetitive motor activity	Autism
Spasticity, hyperreflexia, clonus, extensor plantar response, contractures	Cerebral palsy
Athetosis, choreoathetosis, ataxia	Cerebral palsy
Dysarthria	Cerebral palsy