Stuve-Wiedemann Syndrome

Alternative Names

  • STWS
  • SWS
  • Schwartz-Jampel Syndrome Type 2
  • SJS2
  • Schwartz-Jampel Syndrome Neonatal
  • Stuve-Wiedemann/Schwartz-Jampel Type 2 Syndrome
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

601559

Mode of Inheritance

Autosomal recessive

Gene Map Locus

5p13.1

Description

Stuve-Wiedemann syndrome, originally described in 1971, is a rare abnormality that belongs to the group of the bent-bone dysplasias and is characterized by bowing of the lower limbs, with internal cortical thickening, wide metaphyses with abnormal trabecular pattern, and campodactyly. Additional features include feeding and swallowing difficulties, as well as respiratory distress and hyperthermic episodes, which cause death in the first months of life. The rare survivors develop progressive scoliosis; spontaneous fractures; bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability; absent corneal and patellar reflexes; and smooth tongue.

This syndrome has been considered uniformly lethal until reports presented cases of patients surviving beyond three years. Some of these survivors were diagnosed as patients with Schwartz-Jampel type 2 syndrome. In addition to this, clinical and radiological overlap with Schwartz-Jampel type 2 syndrome has suggested that Stuve-Wiedemann syndrome and Schwartz-Jampel type 2 syndrome could be a single entity.

There is evidence that Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome is caused by mutation in the leukemia inhibitory factor receptor gene. The leukemia inhibitory factor is a polyfunctional cytokine that affects the differentiation, survival, and proliferation of a wide variety of cells in the adult and the embryo.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
601559.1.1PalestineUnknownYesYes Bowing of the long bones; Flared lower ...NM_001127671.2:c.1601-1G>AHomozygousAutosomal, RecessiveDagoneau et al. 2004
601559.1.2PalestineUnknownYesYes Bowing of the long bones; Flared lower ...NM_001127671.2:c.1601-1G>AHomozygousAutosomal, RecessiveDagoneau et al. 2004 Sibling of 601559.1....
601559.2PalestineUnknownYes Bowing of the long bones; Flared lower ...NM_001127671.2:c.2472_2476delHomozygousAutosomal, RecessiveDagoneau et al. 2004
601559.3.1OmanUnknownYesYes Bowing of the long bones; Flared lower ...NM_001127671.2:c.653dupHomozygousAutosomal, RecessiveAl-Gazali et al. 1996; Dagoneau et al. 2004 Family residing in U...
601559.3.2OmanUnknownYesYes Bowing of the long bones; Flared lower ...NM_001127671.2:c.653dupHomozygousAutosomal, RecessiveAl-Gazali et al. 1996; Dagoneau et al. 2004 Sibling of 601559.3....
601559.4YemenFemaleYes Bowing of the long bones; Flared lower...NM_001127671.2:c.653dupHomozygousAutosomal, RecessiveAl-Gazali et al. 2003; Dagoneau et al. 2004; Langer et al. 2004 Family residing in U...
601559.5.1YemenMaleYesYes Bowing of the long bones; Flared lower...NM_001127671.2:c.653dupHomozygousAutosomal, RecessiveAl-Gazali et al. 2003; Dagoneau et al. 2004; Langer et al. 2004 Family residing in U...
601559.5.2YemenMaleYesYes Bowing of the long bones; Flared lower ...NM_001127671.2:c.653dupHomozygousAutosomal, RecessiveAl-Gazali et al. 2003; Dagoneau et al. 2004 Sibling of 601559.5....
601559.6OmanUnknownYesYes Bowing of the long bones; Flared lower...NM_001127671.2:c.653dupHomozygousAutosomal, RecessiveDagoneau et al. 2004 Family residing in U...
601559.7OmanUnknownYesYes Bowing of the long bones; Flared lower ...NM_001127671.2:c.653dupHomozygousAutosomal, RecessiveDagoneau et al. 2004 Family residing in U...
601559.8LebanonMaleNo Camptodactyly; Bowing of the legs; Prema...NM_001127671.1:c.380dup, NM_001127671.1:c.2336G>THeterozygousAutosomal, RecessiveJung et al. 2010
601559.9United Arab EmiratesMaleNoYes Abnormal facial shape; Abnormal skeletal...NM_001127671.2:c.653dupHomozygousAutosomal, RecessiveSaleh et al. 2021
601559.10PalestineFemaleYes Arthrogryposis multiplex congenita; Scol...NM_001127671.2:c.1121+1G>AHomozygousAutosomal, RecessiveMaddirevula et al. 2018
601559.G.1United Arab EmiratesUnknownYesYes Micromelia; Bowing of the long bones; ...NM_001127671.2:c.653dupHomozygousAutosomal, RecessiveBegam et al. 2011 10 patients; 6 pre-n...

Other Reports

Oman

Al-Gazali et al. (1996) reported 11 children in 5 families, four of Omani origin, with severe neonatal Schwartz-Jampel Syndrome. All presented at birth with skeletal abnormalities and feeding difficulties. Five had the typical pursed appearance of the mouth. Nine died from respiratory complications (5 in the neonatal period and 4 before 2 years of age). One (4 months old) remains hospitalized since birth requiring continuous oxygen supplementation and one (5 months old) requires nasogastric tube feeding and has repeated attacks of aspiration. Al-Gazali et al. (1996) suggested that within the group of cases of neonatal Schwartz-Jampel syndrome there is a subgroup with severe respiratory complications and early death. Brown et al. (1997) conducted linkage analysis in these two families and the results were not consistent with linkage to chromosome 1p34-p36.

Sudan

Al-Gazali et al. (2000) reported a Sudanese baby, born to first cousin parents, with congenital bowing of the long bones, camptodactyly, talipes equinovarus and radiological features resembling both Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2. There was a history of one miscarriage at two months gestation. The couple had two normal children. The affected baby had, in addition, agenesis of the corpus callosum and other non-specific dysmorphic features including microganthia, a short neck and low set ears. The baby developed respiratory distress after birth and died if respiratory complications. Al-Gazali et al. (2000) noted that the agenesis of the corpus callosum has net been reported in either Stuve-Wiedemann syndrome or Schwartz-Jampel syndrome type 2. They also suggested that the constellation of abnormalities in their case could represent a previously non-described syndrome.

United Arab Emirates

Al Gazali (1993) reported three sibs, two females and one male, of a family of United Arab Emirates origin with severe manifestation of Schwartz-Jampel Syndrome. The family consists of unrelated parents with a total of eight children. Two of these children survived until the age of three and four years respectively and one died at two years of age. The two older children, both females, died of overwhelming chest infections at 3-4 years of age. Both had, in addition to the shortening and flaring of the metaphyses, severe spinal deformity (kyphoscoliosis) and fragmented femoral epiphyses with rapid destruction on the right side in the older child. The younger male patient had multiple admissions because of failure to thrive and recurrent respiratory problems with laryngospasm. He died at the age of 2 years.

Al-Gazali et al. (2003a) reviewed all cases of Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome in the United Arab Emirates diagnosed over a period of 10 years (1993-2003) and calculated the birth prevalence of this disorder as 0.52/10,000 births. 

Hassan et al. (2010) reported five children with Stuve-Wiedemann syndrome. They were followed since birth and all survived into childhood with an average mean age of 7.8 years (5 to 14). They had functional impairment with dysplasia of the long bones and scoliosis.

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