Desbuquois Dysplasia 1

Alternative Names

  • DBQD1
  • Desbuquois Syndrome
  • Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification
  • Desbuquois Dysplasia
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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

251450

Mode of Inheritance

Autosomal recessive

Gene Map Locus

17q25.3

Description

Desbuquois syndrome is a rare autosomal recessive chondrodysplasia. It has a wide clinical spectrum characterized by short stature of prenatal onset with rhizomelic and mesomelic shortness, joint laxity, and characteristic facial dysmorphism including a round face, prominent, bulging eyes, and midface hypoplasia. Radiologically, Desbuquois syndrome is characterized by a "Swedish key" or "monkey wrench" appearance of the proximal femur and advanced carpal and tarsal bone age. Other characteristic hand changes include an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal phalanx of the thumb, and phalangeal dislocations, but these features are only reported in a third of the patients.

Two forms of Desbuquois syndrome have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. Desbuquois Dysplasia 1 is associated with mutation in CANT1  gene.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
251450.1Saudi ArabiaMaleYes Skeletal dysplasia; Macrocephaly at birt...NM_001159773.2:c.902_906dupHomozygousAutosomal, RecessiveMaddirevula et al. 2018
251450.2Saudi ArabiaFemaleYesYes Brachydactyly; Acromelia; Bilateral tali...NM_001159773.2:c.902_906dupHomozygousAutosomal, RecessiveMaddirevula et al. 2018
251450.3SyriaFemaleYesYes Skeletal dysplasia; Low-set ears; Abnorm...NM_001159773.2:c.902_906dupHomozygousAutosomal, RecessiveMaddirevula et al. 2018
251450.4.1Saudi ArabiaMaleYesYes Short long bone; Intrauterine growth ret...NM_001159773.2:c.902_906dupHomozygousAutosomal, RecessiveMaddirevula et al. 2018
251450.4.2Saudi ArabiaFemaleYesYes Short long bone; Intrauterine growth ret...NM_001159773.2:c.902_906dupHomozygousAutosomal, RecessiveMaddirevula et al. 2018 Relative of 251450.4...
251450.5Saudi ArabiaFemaleYes Severe short stature; Multiple joint dis...NM_001159773.2:c.902_906dupHomozygousAutosomal, RecessiveMaddirevula et al. 2018
251450.6Saudi ArabiaMaleYes Limb undergrowth; Narrow chest; Neonatal...NM_001159773.2:c.902_906dupHomozygousAutosomal, RecessiveMaddirevula et al. 2018
251450.7AlgeriaNoYes Intrauterine growth retardation; Large j...NM_001159773.1:c.901_903delHomozygousRanza et al. 2017
251450.8MoroccoYes Growth delay; Joint dislocation; Abnorma...NM_001159773.2:c.1121T>AHomozygousAutosomal, RecessiveNizon et al. 2012
251450.9YemenYes Growth delay; Joint dislocation; Bifid d...NM_001159773.2:c.531_532delHomozygousAutosomal, RecessiveNizon et al. 2012
251450.10United Arab EmiratesMaleYes Intellectual disability; Hyperlordosis; ...NM_001159773.2:c.899G>AHomozygousAutosomal, RecessiveHuber et al. 2009 Patient from 'family...
251450.11MoroccoMaleYes Joint dislocation; Death in infancyNM_001159773.2:c.902_906dupHomozygousAutosomal, RecessiveHuber et al. 2009 Patient from 'family...
251450.12Saudi ArabiaYes Skeletal dysplasiaNM_001159773.2:c.902_906dupHomozygousAutosomal, Recessive Fetus

Other Reports

Morocco

Gillessen-Kaesbach et al. (1995) reported a male from a consanguineous family from Morocco with Desbuquois syndrome. The patient presented with micromelic short stature, flat midface, irregular ossification of the vertebral bodies and an advanced bone age. Faivre et al. (2003) further conducted a genome wide search on the patient of Gillessen-Kaesbach et al. (1995). An ancestral recombination event between loci D17S1806 and D17S1822 in the family defined the distal boundary of the genetic interval (9.5 cM). Nine genes were considered as possible candidates genes by their position and two more genes were considered as possible candidates by their function [See also: United Arab Emirates > Faivre et al. (2003)]. Faivre et al. (2003) concluded that the gene responsible for Desbuquois syndrome in the Moroccan family maps to chromosome 17q25.3.

Saudi Arabia

Faden et al. (2010) described a male Saudi neonate born to consanguineous parents with typical Desbuquois features.  An ultrasound during the mother’s pregnancy revealed a micromelic fetus.  Subsequently, the patient was born full term via spontaneous vertex delivery.  The child showed severe growth retardation with abnormally short limbs and clubfeet.  Facial dysmorphia included a rounded face, micrognathia, depressed nasal bridge, long philtrum and significant bluish corneal haziness in both eyes.  An examination confirmed the presence of bilateral congenital glaucoma.  X-rays of the hands revealed Desbuquois features, namely short metacarpals, two extra ossification centers distal to the second and third metacarpals, and delta phalanx formation in the first proximal phalanx.  Multiple phalangeal dislocations were also found.  The patient also had coronal clefting of the vertebral bodies, broad proximal femur with spur like projection of the lesser trochanters (‘monkey-wrench’ sign), tall ilia and flat acebular roof.  Other features of note were a short neck, small chest, a protuberant abdomen and hypotonia.  The patient succumbed to severe respiratory distress at 1-month of age.  By carrying out homozygosity scanning and mutation analysis, a novel 5 bp duplication (c.893-894insGCCGC) was discovered in the CANT1 gene.  This was predicted to result in a frameshift and premature truncation of the protein at codon 325.  Both parents were found to be carriers of the mutation.

Tunisia

Al Kaissi et al. (2005) reported three Tunisian siblings with a rare assortment of clinical and radiographic abnormalities closely resembling Desbuquois dysplasia. The patients were the result of a second-degree consanguineous marriage. Two other siblings died of unknown causes soon after birth. The first patient was of an 8-year-old girl who had joint laxity and walking difficulties. At the age of 8 years she had a normal face, a very short neck, and narrow thorax. The second case was the brother of patient 1. At 7 years he had a short stature, multiple joint dislocations, kyphoscoliosis, and a normal face similar to that of his older sister. The third case was the sister of patients 1 and 2. She had hypotonia and joint laxity muscular dystrophy. All siblings had normal hands and were mentally normal. Radiographic examinations showed a generalized osteopenia with narrowing of the joint spaces and intervertebral discs. They also had prominent posterior cranial fossa and narrow cranial sutures. In addition, the patients had an additional remarkable radiographic feature not reported in Desbequois dysplasia-multiple carpal ossification centers. A 27-year-old brother refused to be investigated. He had a similar face to the affected siblings but no kyphoscoliosis or joint dislocations. Al Kaissi et al. (2005) proposed that the condition of their patients represents a novel Desbuquois-like syndrome.

United Arab Emirates

In 1996, Al-Gazeli et al. reported a consanguineous Arab Bedouin family with Desbuquois syndrome. Affected members of the family had typical Desbuquois syndrome features including a midface hypoplasia and joint laxity. This was probably the first report on Desbuquois syndrome in Arab Bedouins. Faivre et al. (2003) further conducted a genome wide search in an affected male of the family of Al-Gazeli et al. (1996). The proband turned out to be homozygous for the marker D17S784. The authors concluded that the gene responsible for Desbuquois syndrome maps to chromosome 17q25.3 with a possible genetic homogeneity of the clinical subtype with hand anomalies.

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