Synonym(s): - Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare urogenital disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
CDKN1C	P49918	600856

- Adrenal glands anomalies
- Anomalies of bones / skeletal anomalies
- Autosomal recessive inheritance
- Depressed nasal bridge
- Frontal bossing / prominent forehead
- Hypospadias / epispadias / bent penis
- Hypotonia
- Intrauterine growth retardation
- Late puberty / hypogonadism / hypogenitalism
- Low set ears / posteriorly rotated ears
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Short limbs / micromelia / brachymelia
- Undescended / ectopic testes / cryptorchidia / unfixed testes