EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES DBSNP FREQUENCY EXCLUDE ALL VARIANTS PRESENT IN DBSNP ESP6500 FREQUENCY EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT SCORES SIFT SCORE EXCLUDE VARIANTS WITHOUT SIFT SCORE POLYPHEN2 SCORE EXCLUDE [mendelmd.org]

Lid colobomas and down-slanting palpebral fissures may be present. [disorders.eyes.arizona.edu]

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]

The numbered bands specify the location of the hundreds of genes that are present on each chromosome. [rarediseases.org]

• Short Stature

  Stature Syndrome, Brussels Type Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis [rgd.mcw.edu]

  237834000 Short stature disorder 237836003 Carpenter Waziri syndrome 719101006 ancestors sorted most to least specific X-linked hereditary disease 128430005 Intellectual disability 110359009 Short stature disorder 237836003 Multiple malformation syndrome [findacode.com]

  He had mental retardation, short stature, micropenis, and cryptorchidism. [omim.org]

  stature and moderate intellectual deficit. [retkebolesti.com]

  short stature Abnormality of the radius Short phalanx of finger Dental malocclusion Abnormality of female external genitalia Myopia Blindness Small hand Abnormality of cardiovascular system morphology Hernia Rod-cone dystrophy Posteriorly rotated ears [mendelian.co]

• Anemia

  And/Or Hemolytic Anemia GLUT1DS2 DYT18 612126 Genetic Test Registry Goldberg-Shprintzen Syndrome Goldberg-Shprintzen Megacolon Syndrome GOSHS 609460 Genetic Test Registry Kleefstra Syndrome 9q Subtelomeric Deletion Syndrome 9q- Syndrome Chromosome 9q34.3 [ukgtn.nhs.uk]

  Other Anemia, if present, is mild and rarely requires treatment. [ncbi.nlm.nih.gov]

  The human Xq11-Xq21.3 region has been implicated in several inherited disorders including dystonia-parkinsonism (DYT3), sideroblastic anemia and several specific and non-specific forms of mental... Gene - issue: 1-2 - volume: 235 - pages: 43-50. [marseille-medical-genetics.org]

  Keywords Preimplantation Genetic Diagnosis Gonadal Dysgenesis Molecular Genetic Testing Ambiguous Genitalia Hypochromic Anemia These keywords were added by machine and not by the authors. [link.springer.com]

  […] facies syndrome Alternative gene name XH2, XNP Panels that include the gene Comprehensive Hematology Panel Comprehensive Epilepsy Panel Beyond Paediatric Epilepsy Panel – for Europe and Middle East Abnormal Genitalia/ Disorders of Sex Development Panel Anemia [blueprintgenetics.com]

• Developmental Disorder

  […] findings 250171008 Genetic disease 782964007 Congenital malformation 276654001 Disorder of head 118934005 Finding of face 301310005 Finding of head region 298364001 Congenital disease 66091009 Developmental disorder 5294002 Disorder by body site 123946008 [findacode.com]

  Asperger's syndrome is a developmental disorder that affects a child's ability to socialize and communicate effectively with ... | PowerPoint PPT presentation | free to download Aicardi. CMT, lonasescu variant. Bertini. Prieto. [powershow.com]

  […] corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Cote Katsantoni Syndrome COUSIN SYNDROME Coxoauricular Syndrome Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental [rgd.mcw.edu]

• Weight Gain

  He showed normal weight gain and head circumference, which had not been described previously. Hematologic and molecular studies of the patient excluded the thalassemia trait or Hb H disease. [omim.org]

• Failure to Thrive

  […] to thrive, early hypotonia, and later hypertonia, all suggestive of the Smith–Fineman–Myers syndrome. [en.wikipedia.org]

  […] to thrive Widely-spaced maxillary central incisors Intrauterine growth retardation Congenital onset Severe short stature Hypoglycemia Sporadic Abnormality of the pinna Postnatal growth retardation Attention deficit hyperactivity disorder Talipes calcaneovalgus [mendelian.co]

• Macrostomia

  […] retardation English OMIM 309580 L9551686 no S7524100 Y JMS (JABL) Congenital Mental Retardation Syndromes Moderate to severe mental retardation, short stature, mild obesity, hypogonadism, low total finger ridge count, and distinctive narrow facies marked by macrostomia [doctor.am]

  […] stature, mild obesity, hypogonadism, a low total finger ridge count, and a distinctive face characterized by bitemporal narrowness, almond-shaped palpebral fissures, depressed nasal bridge, anteverted nares, short and inverted-V-shaped upper lip, and macrostomia [omim.org]

  […] short stature, mild obesity, hypogonadism, a low total finger ridge count, and a distinctive face characterized by bitemporal narrowness, almond-shaped palpebral fissures, depressed nasal bridge, anteverted nares, short inverted V-shaped upper lip, and macrostomia [nature.com]

• Macroglossia

  Hyperactivity ; Hyperreflexia ; Hypertelorism ; Hypogonadism ; Hypoplastic philtrum ; Hypospadias ; Infantile muscular hypotonia ; Intellectual disability, progressive ; Intellectual disability, severe ; Kyphoscoliosis ; Low-set ears ; Lower limb hypertonia ; Macroglossia [mousephenotype.org]

  […] of finger Phimosis Cystic hygroma Hypoplastic left heart Pulmonary hypoplasia Drooling Short distal phalanx of finger Scrotal hypoplasia Single umbilical artery Narrow face Bicuspid aortic valve Open mouth Narrow forehead Renal hypoplasia Small hand Macroglossia [mendelian.co]

  […] progressive　(進行性知的障害)　[HP:0006887]　[0120] 　Intellectual disability, severe　(重度知的障害)　[HP:0010864]　[0120] 　Kyphoscoliosis　(後側弯)　[HP:0002751]　[161500] [161502] 　Lower limb hypertonia　(下肢筋緊張亢進)　[HP:0006895]　[0241] 　Low-set ears　(耳介低位)　[HP:0000369]　[09007] 　Macroglossia [syndromefinder.ncchd.go.jp]

• Hearing Impairment

  Diseases related with Hearing impairment and Open mouth In the following list you will find some of the most common rare diseases related to Hearing impairment and Open mouth that can help you solving undiagnosed cases. [mendelian.co]

  Open mouth ; Optic atrophy ; Paroxysmal bursts of laughter ; Pes planus ; Phenotypic variability ; Posteriorly rotated ears ; Protruding tongue ; Ptosis ; Radial deviation of finger ; Renal hypoplasia ; Scrotal hypoplasia ; Seizures ; Sensorineural hearing [mousephenotype.org]

  For some individuals with hearing impairment, hearing aids may be beneficial. [rarediseases.org]

• Genu Valgum

  Diseases related with Wide nasal bridge and Genu valgum In the following list you will find some of the most common rare diseases related to Wide nasal bridge and Genu valgum that can help you solving undiagnosed cases. [mendelian.co]

  Brachydactyly ; Clinodactyly ; Coarse facial features ; Constipation ; Cryptorchidism ; Decreased testicular size ; Delayed skeletal maturation ; Depressed nasal bridge ; Dolichocephaly ; Drooling ; Epicanthus ; Exotropia ; Gastroesophageal reflux ; Genu [mousephenotype.org]

  Additional skeletal abnormalities such as deformed hips, a rounded upper back that also curves to the side ( kyphoscoliosis ), and knees that are angled inward (genu valgum) frequently occur. [ghr.nlm.nih.gov]

  valgum); and/or an abnormal curvature of the spine (kyphoscoliosis). [rarediseases.org]

  0002019]　[01803] 　Decreased testicular size　(小さな精巣)　[HP:0008734]　[14014] 　Depressed nasal bridge　(低い鼻梁)　[HP:0005280]　[0722] 　Drooling　(流涎)　[HP:0002307]　[01807] 　Epicanthus　(内眼角贅皮)　[HP:0000286]　[06811] 　Gastroesophageal reflux　(胃食道逆流)　[HP:0002020]　[01809] 　Genu [syndromefinder.ncchd.go.jp]

• Foot Deformity

  Their hands are short with unusual palm creases with short, shaped fingers and foot abnormalities, such as are shortened and fused toes. [en.wikipedia.org]

  Features were an unusual facial appearance, cortical atrophy, dolichocephaly, short stature, cleft palate, micrognathia, prominent upper central incisors, bilateral Sidney line, minor foot deformities, instability in walking, early hypotonia, hyperreflexia [omim.org]

  Short stature may be accompanied by minor skeletal anomalies (brachydactyly, clinodactyly, tapered digits, joint contractures, pectus carinatum, kyphosis, scoliosis, dimples over the lower spine, varus and valgus foot deformation, and pes planus). [ncbi.nlm.nih.gov]

  Additional features were brachydactyly, decreased musculature of the distal legs, foot deformation (right foot everted, left foot with midfoot varus), scoliosis, flexion of the hips, genu vara, soft loose skin over the hands and hyperextensible joints [bmjopen.bmj.com]

• Narrow Face

  This syndrome's external signs would be an unusual facial appearance with their heads being slightly smaller than average, a narrow face (clinically known as dolichocephaly), a large mouth with a drooping lower lip that is held open, protruding upper [en.wikipedia.org]

  Clinical Features Smith et al. (1980) described 2 brothers with a combination of mental retardation, microcephaly, short stature, and unusual facial appearance, including slanted palpebral fissures, narrow face with maxillary overjet, alternating exotropia [omim.org]

  face Bicuspid aortic valve Open mouth Narrow forehead Renal hypoplasia Small hand Macroglossia Congenital diaphragmatic hernia Coarctation of aorta Small nail Finger clinodactyly Short thumb Decreased testicular size Multicystic kidney dysplasia Triangular [mendelian.co]

  Macroglossia　(巨舌)　[HP:0000158]　[08109] 　Malar flattening　(平坦な頬部)　[HP:0000272]　[05200] 　Microcephaly　(小頭)　[HP:0000252]　[03013] 　Micropenis　(小陰茎)　[HP:0000054]　[14013] 　Microtia　(小耳)　[HP:0008551]　[090111] 　Midface retrusion　(顔面中部後退)　[HP:0011800]　[05200] 　Narrow [syndromefinder.ncchd.go.jp]

• Narrow Forehead

  forehead ; Obesity ; Open mouth ; Optic atrophy ; Paroxysmal bursts of laughter ; Pes planus ; Phenotypic variability ; Posteriorly rotated ears ; Protruding tongue ; Ptosis ; Radial deviation of finger ; Renal hypoplasia ; Scrotal hypoplasia ; Seizures [mousephenotype.org]

  forehead Spastic tetraplegia Protruding tongue Genu recurvatum Excessive salivation Acetabular dysplasia Everted upper lip vermilion Synophrys Lumbar scoliosis Periventricular leukomalacia Broad forehead Hypoplastic thumbnail Growth delay Encephalopathy [mendelian.co]

  forehead　(狭い額)　[HP:0000341]　[0503] 　Open mouth　(開口)　[HP:0000194]　[08003] 　Optic atrophy　(視神経萎縮)　[HP:0000648]　[06522] 　Paroxysmal bursts of laughter　(発作性の爆発的笑い)　[HP:0000749]　[02206] 　Protruding tongue　(舌挺出)　[HP:0010808]　[08109] 　Ptosis　(眼瞼下垂)　[HP:0000508 [syndromefinder.ncchd.go.jp]

• Carp-Like Mouth

  […] lower lip vermilion　(分厚い下口唇唇紅部)　[HP:0001805]　[05522] 　Thin upper lip vermilion　(薄い上口唇唇紅部)　[HP:0000219]　[05531] 　Triangular nasal tip　(三角形の鼻尖)　[HP:0000451]　[0706] 　Upslanted palpebral fissure　(眼瞼裂斜上)　[HP:0000582]　[0677] 　U-Shaped upper lip vermilion (Carp-like [syndromefinder.ncchd.go.jp]

• Coarse Face

  The older brother also has cupped ears, thick eyebrows and coarse face. +, presence of mutation; −, normal;, proband;, affected;, carrier. [bmjopen.bmj.com]

• Hyperreflexia

  […] features ; Constipation ; Cryptorchidism ; Decreased testicular size ; Delayed skeletal maturation ; Depressed nasal bridge ; Dolichocephaly ; Drooling ; Epicanthus ; Exotropia ; Gastroesophageal reflux ; Genu valgum ; High palate ; Hyperactivity ; Hyperreflexia [mousephenotype.org]

  Muscle tone was hypotonic, but 1 patient had hyperreflexia. [omim.org]

  […] parents, presenting with an unusual facial appearance, cortical atrophy, dolichocephaly, short stature, cleft palate, micrognathia, prominent upper central incisors, bilateral Sidney line, minor foot deformities, unstableness in walking, early hypotonia, hyperreflexia [en.wikipedia.org]

  Cerebellar dysplasia Dilated fourth ventricle Dysgenesis of the cerebellar vermis Anxiety Developmental regression Pectus carinatum Reduced visual acuity Intellectual disability, mild Chronic constipation Slow progression Spasticity Flexion contracture Hyperreflexia [mendelian.co]

• Hyperactivity

  Coarse facial features ; Constipation ; Cryptorchidism ; Decreased testicular size ; Delayed skeletal maturation ; Depressed nasal bridge ; Dolichocephaly ; Drooling ; Epicanthus ; Exotropia ; Gastroesophageal reflux ; Genu valgum ; High palate ; Hyperactivity [mousephenotype.org]

  […] cases Strabismus Uncommon Symptoms - Between 30% and 50% cases Brachydactyly Anteverted nares Absent speech Autosomal dominant inheritance Short philtrum Feeding difficulties Midface retrusion Autism Wide nasal bridge Hypoplasia of the corpus callosum Hyperactivity [mendelian.co]

  […] with an unusual facial appearance, cortical atrophy, dolichocephaly, short stature, cleft palate, micrognathia, prominent upper central incisors, bilateral Sidney line, minor foot deformities, unstableness in walking, early hypotonia, hyperreflexia, hyperactivity [en.wikipedia.org]

  […] were an unusual facial appearance, cortical atrophy, dolichocephaly, short stature, cleft palate, micrognathia, prominent upper central incisors, bilateral Sidney line, minor foot deformities, instability in walking, early hypotonia, hyperreflexia, hyperactivity [omim.org]

• Delayed Bone Age

  Growth was less than the third percentile, with delayed bone age. The affected males had deafness, flat nasal bridge, several ocular abnormalities, and a rudimentary scrotum with cryptorchidism. One had a small penis. [omim.org]

  Skeletal surveys in both boys demonstrated only brachycephaly and delayed bone age (prior to treatment with growth hormone). [bmjopen.bmj.com]

Treatment Treatment Options: Treatment beyond corneal repair is limited. References [disorders.eyes.arizona.edu]

Full title Carpenter-Waziri syndrome Name in a foreign language - Inheritance X-linked recessive CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic methods Antenatal diagnosis Epidemiology Genetic counseling [retkebolesti.com]

Kenneth Aitken demystifies the umbrella term 'autism' by alphabetically listing these conditions along with information about how common they are, their causes, signs, and symptoms, and for many, appropriate methods of treatment and management. [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]

Capgras Syndrome Related to Diazepam Treatment. Southern Medical Journal, 97 (1), 65-66. Doi: 10.1097 / 01.smj.0000104841.61912.79. Tueth, M. J., & Cheong, J.A. (1992). Successful Treatment With Pimozide of Capgras Syndrome in an Elderly Male. [lifepersona.com]

Parents should talk to their children’s physician and medical team about their child, potential associated symptoms and overall prognosis. The symptoms of Carpenter syndrome types 1 and 2 are extremely similar and have significant overlap. [rarediseases.org]

Etiology The syndrome is caused by mutations in the ATRX gene (Xq13.3). [retkebolesti.com]

Etiology The syndrome is caused by mutations in the ATRX gene (Xq13.3). Genetic counseling The syndrome is transmitted as an X-linked recessive trait with skewed X-inactivation in carrier females. [findzebra.com]

A recent study suggested that a dodecamer duplication in exon 42 of the HOPA gene in Xq13 may be a significant factor in the etiology of X-linked mental retardation. In an effort to investigate this... Hum. [marseille-medical-genetics.org]

Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. [icd10data.com]

Differential diagnosis - Diagnostic methods - Antenatal diagnosis - Epidemiology Prevalence is unknown but the syndrome was originally described in 1988 in six males from three generations of one family. [retkebolesti.com]

Epidemiology Prevalence is unknown but the syndrome was originally described in 1988 in six males from three generations of one family. [findzebra.com]

Summary Epidemiology Prevalence is unknown but the syndrome was originally described in 1988 in six males from three generations of one family. [orpha.net]

[…] ventricular tachycardia Dentatorubral pallidoluysian atrophy Synonym(s): (no synonyms) Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

Genetics and pathophysiology of mental retarda- tion. Eur. J. Hum. Genet. 14, 701713. 19. Ropers, H.H., and Hamel, B.C. (2005). X-linked mental retardation. Nat. Rev. Genet. 6, 4657. 20. Kleefstra, T., and Hamel, B.C. (2006). [vdocuments.net]

Some reports suggest that early surgical intervention may help to prevent intellectual disability in some instances. [rarediseases.org]

Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly). In severely affected individuals, the abnormal fusion of the skull bones results in a deformity called a cloverleaf skull. [ghr.nlm.nih.gov]

Prevention of secondary complications: Antibiotic prophylaxis and vaccination to prevent pneumococcal and meningococcal infection in those with asplenia. [ncbi.nlm.nih.gov]

Prompt reduction of fractures is important to the prevention of deformities. A multidisciplinary team is important for the treatment and rehabilitation of patients. [disorders.eyes.arizona.edu]

Author information Affiliations Institute of Medical, Preventive and Social Pediatrics, University of Messina, Messina, Italy Pietro Chiurazzi Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands Ben CJ Hamel Institute [nature.com]