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McKusick-Kaufman syndrome
1 OMIM reference -
1 associated gene
16 connected diseases
28 signs/symptoms
Disease Type of connection
Bardet-Biedl syndrome
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Cerebellar ataxia - hypogonadism
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- Hydrometrocolpos - postaxial polydactyly
- Kaufman-Mckusick syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C538159
Gene symbol UniProt reference OMIM reference
MKKS Q9NPJ1604896
Very frequent
- Autosomal recessive inheritance
- Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation

Frequent
- Hypospadias / epispadias / bent penis
- Postaxial polydactyly (hand)
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Urogenital sinus

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Anus ectopia / anteposition / malposition
- Atrial septal defect / interauricular communication
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High vaulted / narrow palate
- Hypoplastic left heart / ventricle
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Metacarpal anomalies / Archibald's sign
- Multicystic kidney / renal dysplasia
- Patent ductus arteriosus
- Postaxial polydactyly of toes / fifth supernumerary toe
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Syndactyly of fingers / interdigital palm
- Tarsal anomaly / fusion / synostosis
- Tetralogy of Fallot / trilogy of Fallot
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis
- Ventricular septal defect / interventricular communication