Full-color medical illustrations present key anatomic details in a clear manner. Thousands of digital-quality images depict the complete range of normal and abnormal imaging presentations. [books.google.com]

Acronym CDP-GPAPP Synonyms GPAPP deficiency Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

The autosomal recessive cases reported in the past may perhaps correspond to parental germline mosaicism, but are more likely to represent more recently defined recessive syndromes with similar presentations. [orpha.net]

Clubfoot is also present in 75 %. [musculoskeletalkey.com]

In this case report we describe a child presenting with a patterned alopecia in which supplementary signs and clinical examination of the mother led to the suspicion of Conradi-Hünermann-Happle syndrome. [readbyqxmd.com]

• Short Stature

  A rare genetic primary bone dysplasia characterised by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size [ncbi.nlm.nih.gov]

  […] varum Disproportionate short-limb short stature Abnormality of epiphysis morphology Coronal craniosynostosis Tibial bowing Patellar dislocation Carpal synostosis Joint dislocation Short toe Short metacarpal Short foot Narrow mouth Mesomelia Abnormality [mendelian.co]

  Orpha Number: 280586 Disease definition Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations [rarediseases.info.nih.gov]

  Format Definition A condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face. [uniprot.org]

• Anemia

  DOOR syndrome Duane Retraction syndrome Dysmorphism, HMG20B related Ectodactyly, ectodermal dysplasia, and cleft lip / palate syndrome Ellis-van Creveld syndrome Epiphyseal dysplasia, multiple, with myopia and deafness Faciogenital dysplasia Fanconi anemia [qlinics.com]

  […] type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis TSR2 DiGeorge syndrome TBX1 Donnai-Barrow syndrome LRP2 DOOR syndrome TBC1D24 Duane Retraction syndrome SALL4 Dysmorphism, HMG20B related HMG20B [centogene.com]

  6 RPL11 Diamond-Blackfan anemia 7 RPL15 Diamond-Blackfan anemia 12 RPL26 Diamond-Blackfan anemia 11 RPL35A Diamond-Blackfan anemia 5 RPS6KA3 (=RSK2) +del+dup Coffin-Lowry syndrome (CLS) Mental retardation, X-linked 19 (MRX19) RPS7 Diamond-Blackfan anemia [uniklinik-freiburg.de]

  […] type 15 with mandibulofacial dysostosis (RPS28) Cost: 65000.00 /- Rs Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis (TSR2) Cost: 65000.00 /- Rs DiGeorge syndrome (TBX1) Cost: 65000.00 /- Rs Donnai-Barrow syndrome (LRP2) Cost: 65000.00 [dnalabspakistan.com]

  Congenital Dyserythropoietic, Type II Dyserythropoietic Anaemia, Congenital, Type II Dyserythropoietic Anaemia, Hempas Type Dyserythropoietic Anemia, Congenital, Type II Dyserythropoietic Anemia, Hempas Type Hereditary Erythroblastic Multinuclearity [ukgtn.nhs.uk]

• Heart Disease

  Although too much cholesterol is a risk factor for heart disease, this molecule is necessary for normal embryonic development and has important functions both before and after birth. [ghr.nlm.nih.gov]

  Chondrodysplasia, Blomstrand type Choroideremia Chrondrodysplasia, acromesomelic, with genital anomalies Chudley-McCullough syndrome Club foot Cockayne syndrome CODAS syndrome Coffin-Siris syndrome, SMARCE1 related Cold-induced sweating syndrome Congenital heart [qlinics.com]

  […] syndrome Harrod syndrome Heart-hand syndrome Heart-hand syndrome type 2 Heart-hand syndrome type 3 Heart-hand syndrome, Slovenian type Hemimelia Hennekam syndrome Hepatic fibrosis-renal cysts-intellectual disability syndrome Hereditary breast cancer [se-atlas.de]

  ECE1 Hirschsprung disease EDN3 Hirschsprung disease EDNRB Hirschsprung disease KIF1BP Hirschsprung disease NRG1 Hirschsprung disease NRTN Hirschsprung disease RET Hirschsprung disease ZEB2 Hirschsprung disease, type 3, susceptibility to GDNF Holoprosencephaly [centogene.com]

  (KIF1BP) Cost: 65000.00 /- Rs Hirschsprung disease (EDNRB) Cost: 65000.00 /- Rs Hirschsprung disease (EDN3) Cost: 65000.00 /- Rs Hirschsprung disease (ECE1) Cost: 65000.00 /- Rs Hirschsprung disease (ZEB2) Cost: 65000.00 /- Rs Hirschsprung disease (NRTN [dnalabspakistan.com]

• Hypertension

  Helena dysplasia NPR3 Hypertension, salt-resistant (?) [uniklinik-freiburg.de]

  Mseleni type Brachydactyly type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A5 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly-arterial hypertension [se-atlas.de]

  Registry Alternating Hemiplegia Of Childhood 1 AHC1 104290 Genetic Test Registry Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins And Other Congenital Anomalies Pulmonary Hypertension [ukgtn.nhs.uk]

• Fracture

  bone; hip fractures; proximal humeral fractures; shoulder fractures; wrist injuries Gene Set From GAD Gene-Disease Associations genes associated with the disease fractures, bone; hip fractures; proximal humeral fractures; shoulder fractures; wrist injuries [amp.pharm.mssm.edu]

  […] imperfecta-skeletal dysplasia Wrinkly skin syndrome X-linked calvarial hyperostosis X-linked dominant chondrodysplasia punctata X-linked hypophosphatemia X-linked osteoporosis with fractures X-linked skeletal dysplasia-intellectual disability syndrome [se-atlas.de]

  Spondylometaphyseal Dysplasia, Sutcliffe (corner fracture) type ; 37. Spondyloenchondrodysplasia ; 38. Spondylometaphyseal Dysplasia with cone-rod dystrophy ; 39. [amazon.de]

  Radiographic manifestations can include calvarial wormian bones and recurrent fractures. [musculoskeletalkey.com]

• Hearing Impairment

  In addition, hearing impairment and mild psychomotor delay have also been reported. Caused by homozygous mutation in the IMPAD1 gene on chromosome 8q12. [ncbi.nlm.nih.gov]

  In addition, hearing impairment and mild psychomotor delay have also been reported. [mendelian.co]

  In addition, hearing impairment and mild psychomotor delay have also been reported. Last updated: 10/1/2018 [rarediseases.info.nih.gov]

  Chondrodysplasia With Joint Dislocations, Gpapp Type Synonyms GPAPP DEFICIENCY Classification bone, developmental, genetic Phenotypes Autosomal recessive inheritance ; Brachydactyly ; Cleft palate ; Coronal craniosynostosis ; Flat face ; Genu valgum ; Hearing [mousephenotype.org]

Management and treatment Management should be adapted to each patient and may involve orthopedic treatment and monitoring, surgical procedures, especially for hip dislocation, and physiotherapy. [orpha.net]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Treatment and prognosis While prognosis is variable, the rhizomelic forms can be lethal 3. [radiopaedia.org]

Concomitant treatment using a Pavlik harness for associated developmental dysplasia of the hip was initiated at the age of 6 weeks and to be maintained for at least 4 months. [jcnonweb.com]

The aim is to find a common thread while genotyping these two entities that may lead to a common treatment. [oatext.com]

Treatment and prognosis While prognosis is variable, the rhizomelic forms can be lethal 3. [radiopaedia.org]

Prognosis LS does not affect life-expectancy. The documents contained in this web site are presented for information purposes only. [orpha.net]

The prognosis of children who have LS is variable and most affected persons have moderate symptoms that can be treated, allowing for a relatively normal life span. In severe forms of LS the prognosis can be poor. [jcnonweb.com]

Imaging of the brain and spinal cord in patients with this disorder may aid prognosis and guide management decisions... 2014: Case Reports in Medicine # 193 REVIEW Daigo Ochiai, Kyoko Takamura, Gen Nishimura, Toshiyuki Ikeda, Kazumi Yakubo, Tatsuro Fukuiya [readbyqxmd.com]

Etiology LS is due to missense mutations or small in-frame deletions in the FLNB gene (localized to 3p14.3) that encodes cytoskeletal protein filamin B. [orpha.net]

Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop. 1997;6:159–66. CrossRef Google Scholar 3. [link.springer.com]

The underlying etiology of RCDP is a deficiency in the biosynthesis of ether phospholipids, of which plasmalogens are the most abundant form in nervous tissue and myelin; however, the role of plasmalogens in the peripheral nervous system is poorly defined [readbyqxmd.com]

Summary Epidemiology The birth prevalence of Larsen syndrome in Europe is 1/250,000 live births. [orpha.net]

In contrast an understanding of the aetiology and pathogenesis of the most common form of non-syndromic joint dislocation, developmental dysplasia of the hip, has remained stubbornly refractory to understanding despite considerable clinical and epidemiological [link.springer.com]

Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010). [centogene.com]

To investigate the exact role of GPC6 in the growth plate and its mechanisms of action we plan to generate a gpc6 knockout mouse and to study the pathophysiology of the skeletal changes in this model.The other two disorders are presently characterized [p3.snf.ch]

When LS is suspected, cesarean delivery is the preferred mode of delivery to prevent limbs and cervical spine trauma during vaginal delivery. [jcnonweb.com]

Mutations in the EBP gene reduce the activity of 3β-hydroxysteroid-Δ8,Δ7-isomerase, preventing cells from producing enough cholesterol. [ghr.nlm.nih.gov]

Apoptosis occurred prior to hypertrophy, prevented the formation of a hypertrophic zone, disrupted normal chondrogenic signaling pathways, and eventually caused chondrodysplasia... 2014: PloS One # 199 K Nicole Weaver, Moussa El Hallek, Robert J Hopkin [readbyqxmd.com]

[…] of a large number of well-characterized individuals in order to identify a broad range of Alzheimer’s disease risk and protective gene variants, with the ultimate goal of facilitating the identification of new pathways for therapeutic approaches and prevention [oatext.com]

HSPB11) apoptotic cell death, role in prevention of IFT27 protein is ras-related, but the function is unknown IFT43 Cranioectodermal dysplasia 3 (CED3) IFT80 Asphyxiating thoracic dystrophy 2 (ATD2) (Jeune syndrome 2) IFT122 Cranioectodermal dysplasia [uniklinik-freiburg.de]