| Syndrome | Clinical features |
Tuberous sclerosis complex (TSC)
(TSC1 and TSC2) | - Hypopigmented macules
- Angiofibromas
- Shagreen patches
- Benign tumors in multiple organs
- Seizures
- Cognitive deficits
|
| Fragile X syndrome | - Long, narrow face
- Prominent forehead and chin
- Large ears
- Testicular enlargement in adolescence
- Macrocephaly
- Arched palate
- Hyperextensible joints
|
| Chromosome 15q11-q13 duplication syndrome | - Hypotonia
- Joint laxity
- Global developmental delays, particularly motor delays
- Seizures
- Speech delay
- Social deficits
- Stereotypies
- Variable pattern of mild facial dysmorphism
|
| Angelman syndrome | - Severe intellectual disability
- Postnatal microcephaly
- Movement/balance problems
- Language delay
- Seizures
|
| Rett syndrome | - Occurs almost exclusively in females
- Loss of speech
- Replacement of purposeful with stereotypic hand movements
- Gait abnormalities
- Abnormal respiratory pattern
|
| Cohen syndrome | - Thick hair and eyebrows
- Wave-shaped palpebral fissures
- Broad nasal tip
- Short or smooth philtrum
- Microcephaly
- Poor weight gain in infancy
- Truncal obesity in adolescence
- Hypotonia
- Developmental delay
- Neutropenia
- Joint hypermobility
|
| Cornelia de Lange syndrome (CDLS) CDLS1, CDLS2, CDLS3, CDLS4, CDLS5 | - Microcephaly
- Synophrys
- Highly-arched eyebrows
- Anteverted nares
- Prenatal onset growth delay
- Hirsutism
- Upper-limb reduction deficits
- Hearing impairment
- Myopia
- Cardiac septal defects
- Gastrointestinal dysfunction
- Genitourinary abnormalities
|
| Neurofibromatosis type 1 | - Multiple café-au-lait macules
- Axillary and/or inguinal freckling
- Lisch nodules (iris hamartomas)
- Neurofibromas
|
| Down syndrome | - Upslanting palpebral fissures
- Epicanthic folds
- Brachycephaly
- Transverse palmar crease
- Intellectual disability
- Medical conditions (eg, cardiovascular disease, gastrointestinal abnormalities, endocrine disorders)
|
| Noonan syndrome (multiple types) | - Short stature
- Congenital heart disease (most often pulmonic stenosis)
- Delayed development
|
| Williams-Beuren syndrome | - "Elfin" facies
- Systemic arterial stenosis (most often supravalvular aortic stenosis)
- Short stature
- Genitourinary abnormalities
- Impaired cognition and development
|
| DiGeorge (22q11.2 deletion) syndrome | - Conotruncal cardiac anomalies
- Hypoplastic thymus
- Hypocalcemia
|
| PTEN-associated macrocephaly syndromes |
| | - Postnatal macrocephaly
- Broad forehead
- Frontal bossing
- Long philtrum
- Depressed nasal bridge
- Intellectual disability
|
| | - Macrocephaly
- Birdlike facies
- Hypoplastic mandible and maxilla
- Cataract
- Microstomia
- High-arched palate
- Pectus excavatum
- Genitourinary anomalies
- Skin tags
- Lipomas
- Penile macules
|
| CHARGE syndrome | - Coloboma of the eye
- Heart defects
- Choanal atresia
- Growth retardation
- Genitourinary anomalies
- Ear abnormalities
|
| Joubert syndrome | - Hypoplasia of the cerebellar vermis
- Neurologic symptoms
- Retinal dystrophy
- Renal anomalies
|
| Smith-Lemli-Opitz syndrome | - Postnatal microcephaly
- Soft cleft palate/bifid uvula
- Micrognathia
- Low-set posteriorly rotated ears
- Poor weight gain
- Syndactyly of the second and third toes
- Abnormal genitalia
- Intellectual disability
- Hypotonia
|
| Timothy syndrome | - Syndactyly
- Congenital heart disease
- Multiorgan dysfunction
- Cognitive abnormalities
|
