Coarse (gargyloid) facies, macrocephaly with
frontal bulging, scaphoidocephaly, premature closure of sagittal and metopic
sutures, J-shaped sella turcica, full cheeks, and prominent nasolabial fold.
Thick earlobes. Prominent lower eyelids, shallow orbits, corneal opacity,
glaucoma, and synophrys. Flat philtrum, wide and anteverted nares, broad tip
and depressed bridge of nose. Wide mouth with protruding tongue, big lips,
and widely spaced teeth. Short neck. Stiff rib cage with pectus excavatum or
carinatum. Prominent abdomen with hernia. Stiff fingers with clawhand. Joint
contractures, long bone deformities, genu valgum, and hip deformities.
Kyphosis, dysplastic (hook-shaped) vertebral bodies, lumbar lordosis. May
have hypoplastic odontoid with atlantoaxial subluxation. Dysostosis
multiplex. Dry, pale, coarse skin with hypertrichosis. Hydrocephalus.
Arteriosclerosis with coronary artery narrowing, valvular defects, mainly
mitral valve thickening. Hepatosplenomegaly. Recurrent chest infections.
Early accelerated growth followed by failure with mental and motor
retardation. Poor gag and swallowing reflexes, rhinorrhea, noisy
respiration, and sleep apnea syndrome, deafness (sensorineural and
conductive), blindness, and psychosis.