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]

  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]

• 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]

• Tachycardia

  […] amyotrophy Papilloma of choroid plexus Precursor B-cell acute lymphoblastic leukemia Severe combined immunodeficiency due to DNA-PKcs deficiency Short rib-polydactyly syndrome, Majewski type Werner syndrome Catecholaminergic polymorphic ventricular tachycardia [csbg.cnb.csic.es]

• 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]

• 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]

• 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]

  Hearing impairment with mixed sensorineural/conductive defects is common. Genetics This autosomal recessive disorder results from homozygous mutations in PRDM5 (4q27). [disorders.eyes.arizona.edu]

  A new X-linked mental retardation syndrome with distal limb defects, hearing impairment, verrucosis and immunodeficiency. Am J Hum Genet 1999 65 : A337. 40. Porteous MEM, Johnson H, Burn J et al :. [nature.com]

• Genu Valgum

  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]

  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]

  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]

• 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]

• Coarse Face

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

• 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]

• 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]

  […] 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]

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

• 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]

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]

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

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]

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. [orpha.net]

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

However, these disorders, while clinically sharing some features of true OI, are better designated as separate conditions based on their unique molecular etiologies. Treatment Treatment Options: Avoidance of trauma is paramount. [disorders.eyes.arizona.edu]

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]

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]

Crawford DC, Acuna JM, Sherman SL: FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med 3:359–371 (2001). [karger.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]

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]

Carrier testing, donor eggs, prenatal diagnosis, and preimplantation genetic testing may be used to prevent recurrence when a specic gene mutation is found. [vdocuments.net]