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short rib-polydactyly syndrome type 4

Friday 24 February 2006

Beemer-Langer syndrome is a relatively recently described form of lethal osteochondrodysplasia with an autosomal recessive mode of inheritance. Neonatal lethal autosomal recessive disease.

The short rib (polydactyly) syndrome Beemer type is a rare lethal osteochondrodysplasia characterized clinically by short limbs, median cleft upper lip and palate, narrow thorax, and protuberant abdomen, and radiologically by short ribs, short and bowed long bones, and mild platyspondyly. The differentiation with the short rib syndrome Majewski type relies mainly on the radiological appearance of the tibia.

Short rib-polydactyly syndromes (SRPSs) are a group of lethal skeletal dysplasia of an autosomal recessive inheritance characterized by markedly narrow ribs, micromelia, and multiple anomalies of major organs.


- hydrops fetalis

- craniofacial anomalies

- laryngeal anomalies

- osteochondrodysplasia

  • short ribs
  • narrow chest
  • mesomelic shortening of limbs with particularly short and broad tibiae
  • bowed limbs (limb bowing)
  • narrow thorax with respiratory insufficiency and pulmonary hypoplasia
  • shortened limbs
  • short horizontal ribs
  • curved short tubular limb bones
  • small ilia
  • scapula
  • mild vertebral abnormality
  • abnormal enchondral ossification with irregular and retarded hypertrophic zone
  • short proximal parts of upper limbs (14768808)
  • bilateral postaxial polydactyly of hands (14768808)
  • bifid big toe with zygodactyly (14768808)
  • occipital horn accompanied (14768808)
  • prominent external occipital protuberance (14768808)
  • short iliac wings (14768808)
  • hypoplastic pubic and ischial rami (14768808)
  • shallow acetabula (14768808)
  • trident shaped acetabula (14768808)
  • wide tubular bones with rounded metaphyses (14768808)

- polydactyly (+/-)

- ambiguous genitalia (14768808)
- choroid plexus cyst (14768808)
- coarctation of aorta (14768808)
- transverse palmar crease
- short intestines (10742417, 2070548)
- absent internal genitalia
- intrahepatic bile duct cysts
- periportal hepatic fibrosis
- pancreatic cysts (9610623)
- intracranial malformations
- single umbilical artery
- pyloric stenosis (2070548)
- polydactyly of the upper limbs (2325097)
- severely hypoplastic external genitalia with anorchidism (2325097)
- anal atresia(2325097)
- severe congenital heart defect (2325097)
- renal agenesis (2325097)
- pancreatic cysts (9610623, 8488867)
- dysplasia of pancreatic Langerhans cells (2070548)
- hepatic fibrosis (9610623)
- intrahepatic bile duct cysts with periportal fibrosis (8488867)
- left persistent superior vena cava (9610623)
- absent internal genitalia (8488867)
- atrophic optic chiasm (8488867)
- absent optic nerves (8488867)
- single left anterior cerebral artery (8488867)
- polymicrogyria, and fusion of the frontal lobes, preoptic region, mammillary bodies, and thalami (8488867)

- multicytsic renal dysplasia (MRD)

- cerebral anomalies (8209908)

- milia
- severe rib shortness (short ribs)
- severe limb shortness (micromelia)
- brachydactyly
- talipes equinovarus
- Dandy-Walker malformation
- accessory spleen
- unfixed mesentery
- ectopic pancreas
- renal cysts

Cytogenetic anomalies

- de novo 17q paracentric inversion mosaicism (17q21 - 17q23) (7856642)

See also

- short rib-polydactyly syndromesa
- short limbs


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