Kosenow Syndrome (Scapuloiliac Dysplasia): Initially described in two unrelated girls presenting with marked hypoplasia of the scapulae, clavicles, and pelvis. [accessanesthesiology.mhmedical.com]

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]

Fibrous dysplasia is found predominantly in children and young adults, with ~75% of patients presenting before the age of 30 years (highest incidence between 3 and 15 years). In polyostotic form, patients usually present by 10 years old. [radiopaedia.org]

The documents contained in this web site are presented for information purposes only. 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]

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]

• Anemia

  AND TRIPHALANGEAL THUMBS 205700 : ANEMIA, AUTOIMMUNE HEMOLYTIC 205950 : ANEMIA, CONGENITAL SIDEROBLASTIC, B6-NONRESPONSIVE 206000 : ANEMIA, FAMILIAL PYRIDOXINE-RESPONSIVE 206100 : ANEMIA, HYPOCHROMIC MICROCYTIC 206200 : ANEMIA, MICROCYTIC 206300 : ANEMIA [www5.geometry.net]

  […] due to adenylate kinase deficiency 386 GSR 387 Hemolytic anemia due to glutathione reductase deficiency 387 Hemolytic anemia due to red cell pyruvate kinase deficiency 388 PKLR 388 HK1 389 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency [research.cchmc.org]

  […] due to KLF1 mutation Congenital dyserythropoietic anemia type 1 Congenital dyserythropoietic anemia type 2 Congenital dyserythropoietic anemia type 3 Congenital dyserythropoietic anemia type 4 Congenital dyserythropoietic anemia type I Congenital dyserythropoietic [csbg.cnb.csic.es]

  The Looper strain harbours a ... 59 Cochlear implant and thiamine-responsive megaloblastic anemia syndrome. Hagr Abdulrahman Abdullah AA Dr. [biomedsearch.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]

• Disproportionate Short Stature

  Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses ... [kegg.jp]

• Short Finger

  Showing of 60 | 100% of people have these symptoms Abnormality of the joint spaces of the elbow 0003943 Brachydactyly Short fingers or toes 0001156 Congenital hip dislocation Dislocated hip since birth 0001374 Elbow flexion contracture Contractures of [rarediseases.info.nih.gov]

• Heart Disease

  Palmoplantar keratoderma- spastic paralysis syndrome 25 Cases 85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 5 Cases 97253 Pancreatic endocrine tumor 0.21 I * 2255 Pancreatic hypoplasia-diabetes- congenital heart [azkurs.org]

  Pellagra-like rash with neurologic Bronze Schilder disease syndrome disease and low stature manifestations trisomy 2q37 Chromosome 2 Bilateral anophthalmia Pelvic dysplasia associated with esophageal atresia and right congenital heart disease and low [yumpu.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]

  We reported a 10 month-old boy who has hypotonia, microcephaly,hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate,down set ears, micrognathia and congenital heart disease such as patent ductus . [biomedsearch.com]

  Genetic Disorders : Ablepharon-Macrostomia Syndrome Subtopics See Also: Health: Conditions and Diseases: Chronic Illness Health: Conditions and Diseases: Rare Disorders Search Google: Ablepharon-Macrostomia Syndrome News Books Links ... [www5.geometry.net]

• Skin Disease

  Respiratory disease; Skin and connective tissue disease [kegg.jp]

  See Pediatric Crohn's disease Pediatric T-cell leukemia Pediatric thyroid cancer - See Thyroid cancer, childhood Pediatric ulcerative colitis pEDS - See Periodontal Ehlers-Danlos syndrome Peeling skin disease - See Peeling skin syndrome Peeling skin [herenciageneticayenfermedad.blogspot.com]

  disease Rare skin disease Rare surgical thoracic disease Rare syndromic intellectual disability Rare systemic or rheumatologic disease Rare urogenital disease Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome Renier-Gabreels-Jasper [se-atlas.de]

• 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]

• Brachydactyly

  Imaging Aplasia of the scapula alae, hypoplasia of iliac bone, humeroradial synosthosis, dislocation of femoral heads, moderate brachydactyly. [medical-dictionary.thefreedictionary.com]

  Features of Pelviscapular dysplasia : Macrocephaly Hypertelorism Hearing impairment Low-set ears Abnormality of the pinna Stenosis of the external auditory canal Short neck Strabismus Deeply set eye Blepharophimosis Hypoplastic scapulae Hypoplastic ilia Brachydactyly [familydiagnosis.com]

  Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synosthosis, dislocation of the femoral heads, and moderate brachydactyly. [uniprot.org]

• Macrocephaly

  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]

  Affiliated tissues include bone, skin and eye, and related phenotypes are macrocephaly and hypertelorism NIH Rare Diseases : 53 Cousin syndrome is a rare syndrome characterized mainly by short stature at birth, unusual facial appearance and skeletal abnormalities [malacards.org]

  More variable features include macrocephaly or microcephaly, hypoplasia of midline brain structures, ventricular dilatation, microphthalmia, cleft lip/palate, and congenital contractures ( Dobyns et al., 1989 ). [mendelian.co]

• Joint Dislocation

  bilateral Congenital elbow dislocation, unilateral Congenital genu flexum Congenital genu recurvatum Congenital heart defect-round face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation [se-atlas.de]

  dislocation Abnormality of the fingernails Abnormal vertebral morphology Sparse and thin eyebrow Abnormality of epiphysis morphology X-linked dominant inheritance Postaxial polydactyly Aplasia/Hypoplasia of the skin Talipes Ichthyosis Abnormality of [mendelian.co]

  dislocations, GPAPP type (CDP-GPAPP) INI1 (offiz. [uniklinik-freiburg.de]

  dislocations, CHST3 type Chondrodysplasia with joint dislocations, gPAPP type Chondrodysplasia with snail-like pelvis Chondrodysplasia, Blomstrand type Chondrodysplasia, Grebe type Chondrodystrophia calcificans congenita Chondroectodermal dysplasia Chondrosarcoma [csbg.cnb.csic.es]

• Severe Short Stature

  SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES; SAMS Is also known as ;sams syndrome Related symptoms: Autosomal recessive inheritance Short stature Hearing impairment Micrognathia Abnormal facial shape SOURCES [mendelian.co]

• 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]

  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]

• Short Neck

  Affiliated tissues include bone, skin and eye, and related phenotypes are macrocephaly and short neck NIH Rare Diseases : 54 Cousin syndrome is a rare syndrome characterized mainly by short stature at birth, unusual facial appearance and skeletal abnormalities [malacards.org]

  neck with redundant skin folds, low hairline, and mild psychomotor retardation. [medical-dictionary.thefreedictionary.com]

  neck Strabismus Deeply set eye Blepharophimosis Hypoplastic scapulae Hypoplastic ilia Brachydactyly Congenital hip dislocation Frontal bossing Low posterior hairline ... ... [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]

• 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]

• 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]

  Of those 3 million base pairs, estimates suggest, between 20 and 25 thousand genes are protein-coding genes. [dna.universeofatoms.com]

  Intelligence may vary from normal to moderately delayed. [1] Mutations in the TBX15 gene inherited in an autosomal recessive pattern have been suggested as the cause of this condition. [2] Last updated: 10/18/2013 This table lists symptoms that people [rarediseases.info.nih.gov]

• 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]

• Tremor

  Genu recurvatum Severe short stature Malar prominence Clinodactyly of the 5th finger Frontal bossing Brachydactyly Peripheral hypomyelination Acute rhabdomyolysis Upper limb postural tremor Recurrent myoglobinuria Malignant hyperthermia Abnormality of [mendelian.co]

  […] nystagmus Trisomy 5p Partial (5p13 or 14-pter) Bruyn Scheltens syndrome and duodenal ulceration nystagmus and duodenal primary Syphilis Penoscrotal transposition Chromosome 5 BSG syndrome ulceration Essential tremors Syphilis tertiary Prepenile scrotum [yumpu.com]

  214150 : CEREBROOCULOFACIOSKELETAL SYNDROME 214200 : CEROID STORAGE DISEASE 214290 : CERVICAL VERTEBRAE, AGENESIS OF 214300 : CERVICAL VERTEBRAL FUSION, AUTOSOMAL RECESSIVE 214350 : CHANDS 214380 : CHARCOT-MARIE-TOOTH DISEASE, PROGRESSIVE ATAXIA, AND TREMOR [www5.geometry.net]

  […] tract, trainer, trait, transaminase, transcobalamin, transfer, transferase, transfusion, transgrediens, transient, translocase, transpeptidase, transplant, transplantation, transport, transporter, transposition, transverse, trauma, traumatic, treatment, tremor [rapsodyonline.eurordis.org]

  85 Renpenning syndrome 85 Pseudohypoaldosteronism, type 2 86 Pseudohypoaldosteronism, type 2C 86 WNK1 86 WNK4 86 BMP15 87 Blepharophimosis - epicanthus inversus - ptosis 87 DIAPH2 87 FMR1 87 FOXL2 87 FSHR 87 Fragile X syndrome 87 Fragile X-associated tremor [research.cchmc.org]

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]

Babies with birth defects often need special care and treatments. The treatments may include surgery, medicines, assistive devices, and therapies. Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]

If asymptomatic, it does not require treatment. [radiopaedia.org]

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 Mutations in the TBX15 gene have been identified as potentially causative. [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]

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]

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]

[…] 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 - 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]