Subtypes

Autosomal chromosome syndrome

Chromosome deletion syndrome

Chromosome duplication syndrome

Chromosome polysomy syndrome

Chromosome translocation syndrome

Polyploidy syndrome

Sex chromosome syndrome

May Cause

Abnormal fibula

Absent fibula

Agenesis or hypoplasia of the corpus callosum

Alopecia

Arachnodactyly

Blepharophimosis

Bulbous nose

Carpal fusion

Cataract

Cleft lip/palate

Clubfoot

Coloboma

Congenital tracheal stenosis x

Corneal abnormality

Elbow dislocation

Encephalocele/meningocele

Eyelid ptosis

Frontal bossing

Hydrocephalus

Hypertelorism

Hypoplastic fibula

Hypoplastic pelvis

Joint subluxation

Large fontanelle

Low-set ears

Macrocephaly

Metatarsus adductus

Multiple abnormal epiphyses

Myopia

Nipple anomaly

Nystagmus

Periauricular pits

Periauricular tag

Short fibula

Stippled epiphyses

Strabismus

Tall vertebrae

Thickened placenta

Trigonocephaly

Vertebral malsegmentation

Vertical talus