Synonym(s): - 7-dehydrocholesterol reductase deficiency - RSH syndrome - SLOS
Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease - Rare renal disease - Rare urogenital disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: D019082
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
DHCR7	Q9UBM7	602858

- Abnormal dermatoglyphics
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- High vaulted / narrow palate
- Hypotonia
- Increased nuchal translucency
- Lipid metabolism anomalies
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Short stature / dwarfism / nanism
- Syndactyly of toes
- Tooth shape anomaly

- Abnormally placed nipples
- Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration
- Ambiguous genitalia
- Atrial septal defect / interauricular communication
- Atrioventricular canal
- Autism / autistic disoders
- Auto-aggressivity / auto-mutilation
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Congenital cardiac anomaly / malformation / cardiopathy
- Cutis marmorata / marbled skin / livedo
- Dilated cerebral ventricles without hydrocephaly
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hyperactivity / attention deficit
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Hypospadias / epispadias / bent penis
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intrauterine growth retardation
- Larynx / laryngeal stenosis / atresia
- Long philtrum
- Low set ears / posteriorly rotated ears
- Macrostomia / big mouth
- Metacarpal anomalies / Archibald's sign
- Micropenis / small penis / agenesis
- Narrow forehead
- Polyhydramnios
- Postaxial polydactyly (hand)
- Postaxial polydactyly of toes / fifth supernumerary toe
- Proximally set thumb
- Ptosis
- Short neck
- Skin photosensitivity
- Sleep and vigilance disorders
- Somnolence / hypersomnia / parasomnia
- Thickened / hypertrophic / fibromatous gingivae
- Tracheal atresia / stenosis
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Ventricular septal defect / interventricular communication

- Abnormal vertebral size / shape
- Agenesis / hypoplasia / aplasia of kidneys
- Anodontia / oligodontia / hypodontia
- Anomalies of the ribs
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Asplenia / polysplenia / spleen lobulation / accessory spleen
- Cataract / lens opacification
- Choanal atresia
- Cleft / notched / bifid tongue
- Coloboma of iris
- Corpus callosum / septum pellucidum total / partial agenesis
- Decreased hair pigmentation / hypopigmentation of hair
- Diaphragmatic hernia / defect / agenesis
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Ectopic / horseshoe / fused kidneys
- Enamel anomaly
- Epicanthic folds
- Gallbladder / common bile duct anomalies
- Gastric / pyloric stenosis
- Glaucoma
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypertelorism
- Hypertonia / spasticity / rigidity / stiffness
- Kyphosis
- Long / thick / curved lashes / trichomegaly / polytrichia
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Mesomelic micromelia
- Microglossia / aglossia / hypoglossia / tongue hypoplasia
- Multicystic kidney / renal dysplasia
- Nystagmus
- Oligodactyly / ectrodactyly of fingers
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Patent ductus arteriosus
- Premature eruption of teeth / natal teeth
- Proptosis / exophthalmos
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Rhizomelic micromelia
- Sclerocornea
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly
- Stillbirth / neonatal death
- Strabismus / squint
- Supernumerary teeth / polyodontia
- Syndactyly of fingers / interdigital palm
- Talipes-varus / metatarsal varus
- Ulnar deviation of fingers
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter