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) |