Johanson-Blizzard syndrome
MIM.243800 15q15-q21.1
Autosomal recessive disease.
Synopsis
short stature
low birth weight
failure to thrive
situs inversus
craniofacial anomalies
- microcephaly
- midline skin dimples over anterior/posterior fontanelles
- hearing loss, sensorineural
- cystic dilatation of cochlea and vestibulum
- strabismus
- cutaneolacrimal fistulae
- lacrimal puncta aplasia
- hypoplastic alae nasi
- beaked nose
- hypoplastic deciduous teeth
- absent permanent teeth
cardiovascular malformations
small nipples
absent areolae
exocrine pancreatic insufficiency
- pancreatic acinar cells immature appearance (17378628)
- pancreatic microlobules separated by loose fibrous tissue (17378628)
- extensive pancreatic periductal fibrosis (17378628)
imperforate anus
anteriorly placed anus
genital anomalies
- micropenis
- hypospadias
- clitoromegaly
- cryptorchidism
- double vagina
- septate vagina
- urethrovaginal fistulae
hydronephrosis
calicectasis
delayed bone age
joint laxity
fifth finger clinodactyly
transverse palmar crease
cafe-au-lait spots
scalp aplasia cutis congenita
transverse palmar crease
blonde, sparse scalp hair
frontal upsweep
extension of lateral hairline onto forehead
?Unruly? scalp hair
anasarca
edema (hands and feet)
mental retardation (2/3 patients)
hypotonia
hypothyroidism (30% patients)
diabetes mellitus
low total serum protein
hypocalcemia
intestinal malabsorption
Etiology
germline mutation in the ubiquitin-protein ligase E3 component N-recognin 1 gene (UBR1) (MIM.605981)
References
Hoffman WH, Lee JR, Kovacs K, Chen H, Yaghmai F. Johanson-blizzard syndrome: autopsy findings with special emphasis on hypopituitarism and review of the literature. Pediatr Dev Pathol. 2007 Jan-Feb;10(1):55-60. PMID: 17378628