OrphaNet reference

Smith-Lemli-Opitz syndrome 

Subtypes

Smith-Lemli-Opitz syndrome type 1

Smith-Lemli-Opitz syndrome type 2

May Cause

Abnormal lacrimal system

Absent nose

Ambiguous genitalia

Blepharophimosis

Brachydactyly

Bulbous nose

Cataract

Cleft lip/palate

Clubfoot

Congenital foot deformity

Congenital heart disease

Congenital hydrocephalus

Congenital short hands and feet

Cryptorchidism

External ear malformation

Eyelid ptosis

Genital anomaly

Hydrocephalus

Hydrops fetalis

Hypoplastic thumb

Hypospadias

Hypospadias or ambiguous external genitalia

Irregular epiphyseal ossification centers

Low-set ears

Mesomelic limb shortness

Metatarsus adductus

Microcephaly

Micrognathia

Micropenis

Multiple abnormal epiphyses

Multiple sclerotic foci in an infant or child

Neuronal migration disorder

Nipple anomaly

Patent ductus arteriosus

Polydactyly

Postaxial polydactyly

Pseudohermaphroditism

Renal cystic disease

Short foot

Short hand

Skin dimple

Skin photosensitivity

Small nose

Stippled epiphyses

Strabismus

Syndactyly

Ventricular septal defect