Edit concept Question Editor Create issue ticket

Pelviscapular Dysplasia

Cousin Syndrome


Presentation

  • New findings are incorporated into all chapters, important advances in treatment are presented and the latest concepts in tumor diagnosis and neuro-orthopedics are discussed.[books.google.com]
  • Kosenow Syndrome (Scapuloiliac Dysplasia): Initially described in two unrelated girls presenting with marked hypoplasia of the scapulae, clavicles, and pelvis.[accessanesthesiology.mhmedical.com]
  • Acronym COUSS Synonyms Craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age.[books.google.com]
Turkish
  • Two other unrelated patients (a German and a Turkish girl) from consanguineous families have recently been reported.[orpha.net]
  • ., 1982].There were no further documented cases until 2008, when Lauschet al. reported two unrelated cases, of German and Turkish origin,with the clinical diagnosis of Cousin syndrome.[docslide.com.br]
Tachycardia
  • […] submitterEpiblepharon of lower lid, Global developmental delay, Visual impairment, Feeding difficulties, Brachycephaly, Short lingual frenulum, Microcephaly, Intellectual disability, Global developmental delay, Downturned corners of mouth, AcromesomeliaSupraventricular tachycardia[ncbi.nlm.nih.gov]
  • 272350 : SUMMITT SYNDROME 272430 : SWEATING, COLD-INDUCED 272440 : SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION 272450 : SYNDESMODYSPLASIC DWARFISM 272480 : SYRINGOMYELIA 272500 : SYSTEMIC CYSTIC ANGIOMATOSIS AND SEIP SYNDROME 272550 : TACHYCARDIA[www5.geometry.net]
  • […] syndrome, syndrome, syndrome, syndrome, syndrome, syndromes, syndromic, synechia, syngnathia, synostoses, synostosis, synovialosarcoma, synovitis, synthase, synthesis, synthetase, synthetic, system, systemic, systemic-onset, T tabatznik, tachyarrhythmia, tachycardia[rapsodyonline.eurordis.org]
  • Bidirectional tachycardia induced by catecholamine Bietti crystalline corneoretinal dystrophy Bietti crystalline dystrophy Bietti crystalline retinopathy Bifid nose with or without anorectal and renal anomalies Bifunctional enzyme deficiency Bilateral[csbg.cnb.csic.es]
  • […] suture opacities 0 Cataract, Coppock-like 0 Cataract, cerulean 0 Cataract, congenital, partial 0 Cataract, nuclear 0 Cataract, posterior polar 0 Cataract, pulverulent 0 Cataract, zonular 0 Cataract-glaucoma 0 Catecholinergic polymorphic ventricular tachycardia[research.cchmc.org]
Heart Murmur
  • murmur, Ventricular septal defect, Attention deficit hyperactivity disorder, Asthma, ...see more Uncertain significance (Aug 20, 2016) criteria provided, single submitterEpiblepharon of lower lid, Global developmental delay, Visual impairment, Feeding[ncbi.nlm.nih.gov]
Strabismus
  • […] condition (OMIM:260660), possibly autosomal recessive, characterised by pelviscapular dysplasia with epiphyseal defects, congenital dwarfism and facial dysmorphism, including frontal bossing, hypertelorism, narrow palpebral fissures, deep-set globes, strabismus[medical-dictionary.thefreedictionary.com]
  • Pelviscapular dysplasia Symptoms and clinical features may include: 1 Clinical Features of Pelviscapular dysplasia : Macrocephaly Hypertelorism Hearing impairment Low-set ears Abnormality of the pinna Stenosis of the external auditory canal Short neck Strabismus[familydiagnosis.com]
  • Definition Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures, deep set globes, strabismus, low-set posteriory rotated and unusually formed[uniprot.org]
Hydrops Fetalis
  • FETALIS, IDIOPATHIC 237100 : HYMEN, IMPERFORATE 237400 : HYPER-BETA-ALANINEMIA 237550 : HYPERBILIRUBINEMIA, CONJUGATED, TYPE III 237900 : HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL 238200 : HYPERCYSTINURIA, ISOLATED 238340 : HYPERLEUCINE-ISOLEUCINEMIA[www5.geometry.net]
  • fetalis Alpha-thalassemia intermedia Alpha-thalassemia major Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis ALPS ALPS with recurrent infections ALS ALS4 ALSG ALSP Alström syndrome ALT Alternating hemiplegia in childhood[csbg.cnb.csic.es]
  • […] of Hopf 748 Darier disease 748 Alpha-N-acetylgalactosaminidase deficiency, type 1 749 N-acetyl-alpha-D-galactosaminidase deficiency 749 NAGA 749 Alpha-thalassemia 750 HBA1 750 HBA2 750 HBZ 750 Hemoglobin Constant Spring 750 Hemoglobin H disease 750 Hydrops[research.cchmc.org]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 30%-79% of people have these symptoms Abnormality of the pinna Abnormally shaped ears Auricular malformation Deformed ears Malformed ears Simple ears [ more ] 0000377 Blepharophimosis Narrow opening between[rarediseases.info.nih.gov]
Winged Scapula
  • 3 Williams syndrome Williams-Beuren syndrome Wilms tumor Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit Wilms tumor and pseudohermaphroditism Wilson disease Wilson-Turner syndrome Winchester syndrome Winged helix deficiency Winged[csbg.cnb.csic.es]
Low Set Ears
  • Symptoms List: Pelviscapular dysplasia Symptoms and clinical features may include: 1 Clinical Features of Pelviscapular dysplasia : Macrocephaly Hypertelorism Hearing impairment Low-set ears Abnormality of the pinna Stenosis of the external auditory canal[familydiagnosis.com]
  • Congenital dwarfism (rhizomelic micromelia), facial dysmorphism (macrocephaly, hypertelorism, low-set ears), short neck, agenesis of the scapular wings, and hypoplasia of the iliac and acetabular wings occurred in both patients.[accessanesthesiology.mhmedical.com]
  • ears Low set ears Lowset ears [ more ] 0000369 Short stature Decreased body height Small stature [ more ] 0004322 30%-79% of people have these symptoms Abnormality of the pinna Abnormally shaped ears Auricular malformation Deformed ears Malformed ears[rarediseases.info.nih.gov]
  • Related symptoms: Autosomal recessive inheritance Microcephaly Cleft palate Low-set ears Short neck SOURCES: DOID UMLS MONDO OMIM More info about MECKEL SYNDROME, TYPE 8; MKS8 Too many results? We can help you with your rare disease diagnosis.[mendelian.co]
  • ears, and micrognathia (Kosenow et al. 1970).[arthritisresearch.us]
Suggestibility
  • Mutations in the TBX15 geneinherited in an autosomal recessive pattern have been suggested as the cause of this condition.[malacards.org]
  • Genetic counseling An autosomal recessive mode of transmission has been suggested. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • The father was confirmed to be heterozygous forthe mutation but no sample was available from the deceasedmother.DISCUSSIONThe clinical and radiologicfindingsof ourpatientwere suggestive ofCousin syndrome, and were particularly reminiscent of the twoindividuals[docslide.com.br]
  • Of those 3 million base pairs, estimates suggest, between 20 and 25 thousand genes are protein-coding genes.[dna.universeofatoms.com]
Psychomotor Retardation
  • retardation due to S-adenosylhomocysteine hydrolase deficiency Pterygium colli-intellectual disability-digital anomalies syndrome Ptosis-syndactyly-learning difficulties syndrome Pycnodysostosis Pyknoachondrogenesis Pyle disease Pyruvate dehydrogenase[se-atlas.de]
Hypertelorism
  • UniProtKB/Swiss-Prot : 75 Cousin syndrome: Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures, deep set globes, strabismus, low-set posteriory[malacards.org]
  • Cousin syndrome A condition (OMIM:260660), possibly autosomal recessive, characterised by pelviscapular dysplasia with epiphyseal defects, congenital dwarfism and facial dysmorphism, including frontal bossing, hypertelorism, narrow palpebral fissures,[medical-dictionary.thefreedictionary.com]
  • Symptoms List: Pelviscapular dysplasia Symptoms and clinical features may include: 1 Clinical Features of Pelviscapular dysplasia : Macrocephaly Hypertelorism Hearing impairment Low-set ears Abnormality of the pinna Stenosis of the external auditory canal[familydiagnosis.com]
  • Definition Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures, deep set globes, strabismus, low-set posteriory rotated and unusually formed[uniprot.org]
Short Neck
Frontal Bossing
  • Cousin syndrome A condition (OMIM:260660), possibly autosomal recessive, characterised by pelviscapular dysplasia with epiphyseal defects, congenital dwarfism and facial dysmorphism, including frontal bossing, hypertelorism, narrow palpebral fissures,[medical-dictionary.thefreedictionary.com]
  • bossing Low posterior hairline ... ...[familydiagnosis.com]
  • Definition Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures, deep set globes, strabismus, low-set posteriory rotated and unusually formed[uniprot.org]

Treatment

  • Treatment - Pelviscapular dysplasia Not supplied. Resources - Pelviscapular dysplasia Not supplied.[checkorphan.org]
  • 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]
  • New findings are incorporated into all chapters, important advances in treatment are presented and the latest concepts in tumor diagnosis and neuro-orthopedics are discussed.[books.google.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • Prognosis - Pelviscapular dysplasia Not supplied. Treatment - Pelviscapular dysplasia Not supplied. Resources - Pelviscapular dysplasia Not supplied.[checkorphan.org]
  • Treatment and prognosis Usually, no treatment is required as the bone lesions usually do not progress beyond puberty. If a mass effect is severe, then surgical decompression may be considered.[radiopaedia.org]
  • […] premature ovarian failure早発閉経(早発卵巣機能不全) premature rupture of themembranes前期破水 premature separation ofnormally implanted placenta常位胎盤早期剥離 premenstrual syndrome月経前症候群(月経前緊張症) presentation胎位 preterm早期 primordial follicle原始卵胞 primordial germ cell原始生殖細胞 prognosis[tokyo-med.ac.jp]

Etiology

  • Etiology Mutations in the TBX15 gene have been identified as potentially causative.[orpha.net]
  • Etiology Pelvis-shoulder dysplasia seems to be a genetically heterogeneous disorder but no causative genes have been identified so far.[orpha.net]
  • Azami Ahad A Department of Internal Medicine, Imam Khomeini Hospital, Ardabil University of Medical Sciences, Ardabil, - - 2014 Cogan's syndrome (CS) is a chronic inflammatory disorder of unknown etiology that most commonly affects young adults.[biomedsearch.com]

Epidemiology

  • Summary Epidemiology Pelviscapular dysplasia was initially described in a North African brother and sister. Two other unrelated patients (a German and a Turkish girl) from consanguineous families have recently been reported.[orpha.net]
  • Summary Epidemiology Approximately 10 patients have been reported so far.[orpha.net]
  • Epidemiology Prevalence is unknown but less than 10 cases have been reported in the literature so far. Clinical description Patients present with severe respiratory distress (requiring intubation) during the neonatal period.[rarediseases.info.nih.gov]
  • Relevant External Links for TBX15 Genetic Association Database (GAD) TBX15 Human Genome Epidemiology (HuGE) Navigator TBX15 Atlas of Genetics and Cytogenetics in Oncology and Haematology: TBX15 No data available for Genatlas for TBX15 Gene Personalized[genecards.org]
  • Prior to closure, it is ... 84 Epidemiology of Orofacial Clefts in the East of Ireland in the 25-Year ... McDonnell Robert - - 2013 Objective: To describe the epidemiology of orofacial clefts in the east of Ireland.[biomedsearch.com]
Sex distribution
Age distribution

Pathophysiology

  • […] vertebral column and head by controling the number of mesenchymal precursor cells and chondrocytes required for the condensation of mesenchymal precursor cells in early development of the skeleton mainly acting as a gene repressor might be involved in the pathophysiology[genatlas.medecine.univ-paris5.fr]

Prevention

  • Prevention - Pelviscapular dysplasia Not supplied. Diagnosis - Pelviscapular dysplasia Not supplied. Prognosis - Pelviscapular dysplasia Not supplied. Treatment - Pelviscapular dysplasia Not supplied. Resources - Pelviscapular dysplasia Not supplied.[checkorphan.org]
  • Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ][icdlist.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]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!