Signs / Symptoms (58)
Craniofacial |
---|
Large nose |
Microcephaly |
Prominent nasal root |
Retrognathia |
Sloping forehead |
Small ears |
Sparse scalp hair |
Upward slanting palpebral fissures |
Endocrine and/or Exocrine |
---|
Precocious puberty |
Type II diabetes |
Genitourinary |
---|
Hypospadias |
Growth |
---|
Adult height (<100cm) |
Postnatal growth retardation |
Short stature |
Truncal obesity |
Intrauterine development |
---|
Intrauterine growth retardation |
Limbs Abnormality |
---|
Brachydactyly |
Clinodactyly |
Neurologic Abnormality |
---|
Developmental delay (mild-severe) |
Infarcts |
Moyamoya disease |
Multiple aneurysms |
Ocular |
---|
Hyperopia |
Oral |
---|
Enamel hypoplasia |
Malformation of mandibular premolars (in some patients) |
Microdontia |
Opalescent teeth |
Rootless molars (in some patients) |
Performance |
---|
High-pitched voice |
Intelligence normal |
Mental retardation |
Skeletal |
---|
Angular scaphoid and trapezium bones (in some patients) |
Bowed short femora |
Bowed tibiae |
Brachymesophalangy (in some patients) |
Coxa vara |
Decreased elbow extension (in some patients) |
Delayed bone age |
Distal symphalangism (in some patients) |
Flat acetabular angles |
High, narrow pelvis |
Ivory and cone-shaped epiphyses (in some patients - disappears with age) |
Large sella turcica (rare) |
Long second toe (in some patients) |
Metacarpal pseudoepiphyses |
Metaphyseal flaring |
Proximal femoral epiphysiolysis |
Short bowed radii |
Short bowed ulnae |
Short distal phalanges |
Short first metacarpals |
Small iliac wings |
V-shaped flaring of distal femoral metaphyses |
Skin |
---|
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines (in some patients) |
Cafe au lait spots |
Thorax |
---|
Hypoplastic scapulae (in some patients) |
Long, slender, straight clavicles (in some patients) |
Narrow chest (in some patients) |