DIASTROPHIC !! HELP!!
Vita Gagne, Diastrophic Dynamics Newsletter, et al. February 19, 2007
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 ...
Victor A. McKusick, OMIM, Johns Hopkins University, October 26, 2006
[for Professionals mainly]
Gene Map Locus: 5q32-q33.1 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 ... 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 ...
Luís Flavio Gonçalves, MD, TheFetus.net, March 7, 1992
[for Professionals mainly]
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 ...
Giuseppe Selva. M.D., Orthopaedic Department, The Alfred I. Dupont Institute, August 29, 1995
[for Professionals mainly] [Support Groups]
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.
Victor A. McKusick, OMIM, Johns Hopkins University, January 26, 1998
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 ...
Team finds dwarfism (diastrophic) gene using ancient history, modern genetics
Eve K. Nichols, Whitehead Institute, September 28, 1994
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 ...
Displasia campomélica. Descripción de un caso
Erik Baltaxe, M.D. et al., Columbia Médica
La displasia campomélica es una alteración del desarrollo óseo que se presenta de forma austosómica dominante. Se caracteriza por el encorvamiento de los fémures y tibias, junto con otras alteraciones orofaciales, cardiopulmonares y neurológicas. El cariotipo puede mostrar sexo reverso. Las mutaciones del gen SOX9 son responsables en la mayoría de casos de estas alteraciones esqueléticas y genitales. Se presenta aquí un caso de displasia campomélica con compromiso óseo de miembros inferiores característico, identificado a través de ECLAMC (Estudio Colaborativo Latinoamericano de Malformaciones Congénitas) en Colombia y se hace una revisión de la fisiopatología molecular de la enfermedad ...
I.B.I.S. Birth Defects, June 11, 2002
Fact Sheet for Specialists in Ukrainian
Inclusions ... Main diagnostic criteria ... Etilogy ... Clinical findings ... Associated anomalies ... Differential diagnosis ... Prognosis
Last Updated: 2008/2/20