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.
Synopsis
hydrops fetalis
- ascites
craniofacial anomalies
- facial dysmorphism (1867273)
- macrocephaly (8946117, 1867273)
- median cleft lip/cleft palate (8946117)
- accessory frenulum
- anophthalmy
- coarsening of facial features (14768808)
- low-set ears (14768808)
- lobulated tongue (14768808, 2325097#)
- cleft palate (14768808)
- hypoplastic epiglottis (14768808)
- cleft tongue (8209908)
- oral frenula (8209908)
- natal teeth (8209908)
- high forehead (1867273)
- flat face (1867273)
- hypertelorism (1867273)
- broad nasal bridge (1867273)
- median cleft lip (1867273)
- median alveolar ridge (1867273)
- grooved palate (1867273)
- accessory frenula (1867273)
- small tongue (1867273)
- hypertelorism (2325097)
- median pseudo-cleft of the upper lip and cleft palate (2325097)
laryngeal anomalies
- hypoplastic larynx (2325097)
- hypoplastic epiglottis (2325097)
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 (+/-)
- postaxial heptasyndactyly of both hands and feet
- preaxial polydactyly of the feet (1897578)
- polydactyly may be absent (10742417, 8085456)
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)
- arachnoid cysts of the brain (10742417)
- neural tube anomalies (9618859)
- Dandy-Walker malformation (1867273)
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
References
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Myong NH, Park JW, Chi JG.Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case.J Korean Med Sci. 1998 Apr;13(2):201-6. PMID: 9610623
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Chen H, Mirkin D, Yang S. De novo 17q paracentric inversion mosaicism in a patient with Beemer-Langer type short rib-polydactyly syndrome with special consideration to the classification of short rib polydactyly syndromes. Am J Med Genet. 1994 Nov 1;53(2):165-71. Review. PMID: 7856642
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