Diastrophic Dysplasia

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Diastrophic Dysplasia

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Topics include Title and
DTD DD SOLUTE CARRIER FAMILY 26
SLC26A2
DTD SULFATE TRANSPORTER
ATELOSTEOGENESIS, TYPE II
ACHONDROGENESIS, TYPE IB
Diastrophic nanism syndrome
Diastrophic dwarfism

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Diastrophic Dysplasia

A Selection of Internet Sites

[*] Outstanding
[P] Professional
[S] Support Groups
[Ukrainian]

DIASTROPHIC DYSPLASIA
by OMIM
CLINICAL SYNOPSIS
Short-limb dwarfism identifiable at birth ... Normocephaly; Neonatal cystic lesions of the pinnae; Hypertrophic auricular cartilage; Ossified pinnae; Cleft palate ... Cervical subluxation; Kyphosis; Scoliosis ... Hitchhiker thumb; Symphalangism of proximal interphalangeal joints; Brachydactyly; Bilateral club foot ... Costal cartilage calcification Costal cartilage calcification ... Autosomal recessive ...

[***] [P] DIASTROPHIC DYSPLASIA
by OMIM
Gene Map Locus: 5q32-q33.1
The patients show scoliosis, a form of clubbed foot bilaterally, malformed pinnae with calcification of the cartilage, premature calcification of the costal cartilages, and cleft palate in some cases. Particularly characteristic is the 'hitchhiker' thumb due to deformity of the first metacarpal. The term 'diastrophic' was borrowed by Lamy and Maroteaux (1960) from geology: diastrophism is the process of bending of the earth's crust by which mountains, continents, ocean basins, etc., are formed. ... Hall (1996) described extreme variability within a sibship in which 3 sibs were diagnosed with diastrophic dysplasia. He commented that the phenotype may be sufficiently mild in some instances as to render the diagnosis uncertain. Makitie and Kaitila (1997) collected growth data on 121 Finnish patients with DTD. They reported that the median adult height was 135.7 cm for males and 129 cm for females. Growth failure was progressive, partly because of absent or weak pubertal growth spurt. ... By routine prenatal ultrasound, Jung et al. (1998) made the prenatal diagnosis of diastrophic dysplasia in a massively obese mother at 21 weeks of gestation. The proportionate shortening of tubular bones by about 50% of the normal length, the absence of thoracic dysplasia, and a normal head circumference narrowed the diagnosis down to a severe but nonlethal skeletal dysplasia. Ulnar deviation of the hands and talipes made diastrophic dysplasia the most likely diagnosis. ... Diab et al. (1994) reported that type IX collagen (120210) appeared abnormal ... Hastbacka et al. (1999) reported identification of the Finnish founder mutation as a GT-to-GC transition in the splice donor site of the previously undescribed 5-prime untranslated exon of the DTDST gene. The mutation acts by severely reducing mRNA levels. Superti-Furga et al. (1995) described mutations in the DTDST gene in achondrogenesis type IB ... ALLELIC VARIANTS ... ATELOSTEOGENESIS, TYPE II ... also called neonatal osseous dysplasia I, is characterized by severely shortened limbs, small chest, scoliosis, club foot of the equinovarus type (talipes equinovarus), abducted thumbs and great toes, and cleft palate ... cervical kyphosis, scoliosis, and lumbar hyperlordosis with horizontal sacrum, flattened vertebrae with coronal clefts, and a widened ileum with horizontal acetabulum. The distal humerus is typically bifid, and the distal femur rounded. The second and/or third metacarpals and first and second metatarsals are often larger than the other bones of the hand and foot. Patients die of respiratory insufficiency shortly after birth ... Hastbacka et al. (1996) studied 3 AO II patients and identified 5 distinct mutations, accounting for all 6 chromosomes in the patients ... ACHONDROGENESIS, TYPE IB ... Superti-Furga et al. (1996) found compound heterozygosity for a C-to-T transition of nucleotide 559, resulting in a R178X amino substitution ...

[***] [P] Diastrophic dysplasia
Luís Flavio Gonçalves, MD
Diastrophic nanism syndrome, diastrophic dwarfism ... characterized by predominantly rhizomelic micromelia, flexion limitations of finger joints ... clubfeet, deformed ear ... progressive scoliosis ... brachydactyly and symphalangism ... thumbs subluxed in abduction ... ”hitchhiker” thumb ... Autosomal recessive ... Bowing of the extremities, cleft palate, micrognathia, facial hemangiomata, anterior chamber eye malformation, craniosynostosis, intracranial calcification, laryngeal or tracheal stenosis, congenital heart disease ... The external examination at autopsy demonstrated short limbs, proximal insertion of the thumbs, exaggerated spacing between the second and third digits of the hand, bilateral clubfoot and impalpable testes. Internal examination revealed hypoplastic lungs, markedly distended ureters and collecting system of the kidneys, and a 2 mm atrial septal defect ... Differential diagnosis (Detail table of distinguishing feature in) ... Diastrophic dysplasia; Achondroplasia heterozygous form; Arthrogryposis multiplex congenita; Spondylo epiphyseal dysplasia congenita; Mesomelic dysplasia Nievergelt type; Weissenbacher Zweymuller syndrome ...

[***] [P] [S] DIASTROPHIC DYSPLASIA
Giuseppe Selva. M.D.
THE ALFRED I. DUPONT INSTITUTE; WILMINGTON, DELAWARE; Diastrophic dwarfism is a rare skeletal dysplasia first defined by Maroteaux and Lamy in 1960. More than 200 cases have been described ... (most from the U.S. and Finland). ... major clinical features of diastrophic dysplasia are: 1.severe short-limb short stature; 2.cleft palate (27-59% of cases); 3.typical ear deformity; 4.progressive deformities; 5.progressive hip; 6.typical hand; 7.severe clubfoot; 8.progressive spinal curvatures; 9.Early degenerative changes in joints ... Autosomic recessive transmission ... 5-6% of cases due to new mutations; Prenatal diagnosis ... through DNA analysis ... second trimester through US (short limb fetus with abnormal metacarpophalangeal profile) ... Lethal form ... Diastrophic variant (mild form with only some features) have a normal life-span expectancy ... Puberal growth spur does not occur in these patients ... Nomocephalic head but typical facial appearance because of the squared jaw, the narrow nasal bridge ... called "cherub dwarfs" ... Cleft palate in 27 to 59% of cases (lower frequency in diastrophic variants and higher in lethal variants). Cauliflower ear deformity in 85% of typical DTDs and in 25% of diastrophic variants ... Virtually every joint is likely to develop stiffness ... Hip dislocation and hip dysplasia have been reported, respectively in 22% and 70% of patients ... Valgus deformity of the knees ... common finding ... Clubfeet are another diagnostic feature ... Scoliosis or kyphoscoliosis occur in 80% of patients ... DIFFERENTIAL DIAGNOSIS: Achondroplasia: no joint contractures ... Arthrogryposis: no dwarfism ... SED no thumb and ear involvement ... Larsen syndrome ... No real dwarfism ... absence of the ear and thumb deformities.

[***] [P] [S] Diastrophic Dysplasia
characterized by Maroteaux and Lamy in 1960
Described as having ‘achondroplasia with clubfoot’ or ‘arthrogryposis multiplex congenita’ (a condition where a person has multiple joint contractures) ... described as having ‘achondroplasia with clubfoot’ or ‘arthrogryposis multiplex congenita’ (a condition where a person has multiple joint contractures) ... ... at birth include short-limbed dwarfism, hitchhiker thumb, and clubfeet ... cleft palate or submucous cleft occur in 50% of patients ... ears swell in the first days to weeks of life in 80% of individuals ... Later, the ears have a ‘cauliflower’ appearance. Fingers are short and broad with ulnar deviation. The thumb has a hitch-hiker type appearance. There is increased mortality in infancy due to respiratory complications ... joints can be dislocated, especially the shoulder, elbows, hips, and patellae (knee caps). Flexion contractures of knees and shoulders are common. Scoliosis is not present at birth but often is progressive, especially in the early teens. The average length at birth is 42cms ... The average adult height is 118cms with males ranging from 86-127cms and females ranging from 104-122cms inherited as an autosomal recessive condition ... Diastrophic dysplasia occurs at very low frequency in most populations but is seen frequently in Finland ... is called ‘diastrophic dysplasia sulfate transporter’ (DTDST). Prenatal diagnosis has been performed using ultrasound and by molecular DNA diagnosis ...

PSEUDODIASTROPHIC DYSPLASIA
by OMIM
Pseudodiastrophic dysplasia was first described in 2 infant sisters by Burgio et al. (1974) ... Similarities to diastrophic dysplasia ... specifically rhizomelic shortening of the limbs and severe clubfoot deformity, other features were different ... Both sisters died suddenly of unexplained hyperthermia, the first at age 8 months and the second at 4 days ...

Diastrophic Dysplasia
Diastrophic Dwarfism
DTD
DD
by National Organization for Rare Disorders, Inc. (NORD)
Diastrophic Nanism Syndrome ... Diastrophic dysplasia, ... is a rare disorder ... present at birth (congenital) ... severity ... may vary greatly from case to case ... short stature ... short arms and legs (short - limbed dwarfism); abnormal development of bones (skeletal dysplasia) and joints (joint dysplasia) ... progressive abnormal curvature of the spine (scoliosis and/or kyphosis); abnormal tissue changes of the outer, visible portions of the ears (pinnae); and/or, in some cases, malformations of the head and facial (craniofacial) area ... ... the thumbs to deviate away from the body ("hitchhiker thumbs"). Other fingers may also be abnormally short (brachydactyly) and joints between certain bones of the fingers (proximal interphalangeal joints) may become fused (symphalangism), causing limited flexion and restricted movement of the finger joints ... many children ... experience limited extension, partial (subluxation) or complete dislocation, and/or permanent flexion and immobilization (contractures) of certain joints ... ... incomplete closure of bones of the spinal column (spina bifida occulta) ... develop progressive abnormal sideways curvature of the spine ... ... most newborns ... develop abnormal fluid-filled sacs (cysts) within the outer, visible portions of the ears (pinnae) ... pinnae become swollen and inflamed and unusually firm ... abnormalities of the head and facial (craniofacial) area including incomplete closure of the roof of the mouth (cleft palate) and/or abnormal smallness of the jaws (micrognathia) ...

Team finds dwarfism (diastrophic) gene using ancient history, modern genetics
by Eve K. Nichols
Whitehead Institute Using a combination of history, population genetics and computational biology, a joint team of US and Finnish scientists has discovered the gene responsible for the third most common form of dwarfism in the United States, and the most common form in Finland ... diastrophic Dysplasia ... the gene showed that it encodes a protein involved in sulfate metabolism ...

[S] DIASTROPHIC !! HELP!! [USA]
by Diastrophic Dynamics Newsletter, et al.
The purpose of this web site is to help the parents of children with diastrophic dysplasia ( DDs for short ) solve the very early questions of self-care and adjustments to the home and school environments ...

[Ukrainian] Diastrophic Dysplasia Fact Sheet for Specialists in Ukrainian
Inclusions ... Main diagnostic criteria ... Etilogy ... Clinical findings ... Associated anomalies ... Differential diagnosis ... Prognosis

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15/November/2002 R.C.