Syndactyly of the fingers is sometimes present as well. Clefting of the soft and hard palates is commonly present and a few patients have had joint contractures. Hearing loss of all types has been reported. Mental development seems to be normal. [disorders.eyes.arizona.edu]

Type 3: In Klein-Waardenburg syndrome or pseudo-Waardenburg syndrome, dystopia canthorum is not present, but one-sided ptosis of the upper eyelid and upper limb anomalies are present. [emedicine.medscape.com]

Affected subjects generally present a very similar behaviour with sociable and good natured disposition. [jmg.bmj.com]

Like the patients reported by Tzschach and the DDD patient, there were no major malformations present. [nature.com]

Verloes type Blepharophimosis-intellectual disability syndrome type V Prevalence: Inheritance: Unknown Age of onset: Infancy, Neonatal ICD-10: Q87.8 OMIM: 604314 UMLS: C1858538 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

• Anemia

  The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Previous 1 2 3 4 ... 7 Next Last [checkrare.com]

  Induced chromosomal breakage study was successful in 171 out of 205 aplastic anemia (AA) patients. According to the sensitivity of MMC at 50ng/ml, 38 patients (22.22%) were diagnosed as affected and 132 patients (77.17%) as unaffected. [scipers.com]

  […] or<strong>de</strong>n alfabético www.orpha.net www.orphadata.org Page 2 and 3: METODOLOGÍA Orphanet proporciona u Page 4 and 5: Número Enfermedad ORPHA Aciduria D Page 6 and 7: Número Enfermedad ORPHA 99114 Agen Page 8 and 9: Número Enfermedad ORPHA Anemia [yumpu.com]

  ORPHA:364577 Fanconi Anemia Hydrocephalus, Aganglionic megacolon, Short palpebral fissure, Upslanted palpebral fissure, Epica... [mousephenotype.org]

  Wonke, Autosomal dominant transmission of congenital erythroid hypoplastic anemia with radial ab-normalities. Am. J. Med. Genet. 40 (1991) 482–484. PubMed CrossRef Google Scholar Muis, N., F.A. Beemer, P. van Dijken, and J.M. [link.springer.com]

• Feeding Difficulties

  difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. [mendelian.co]

  […] bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Dilated cardiomyopathy Stretched and thinned heart muscle 0001644 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Epicanthus inversus 0000537 Feeding [rarediseases.info.nih.gov]

  Significant features, which predicted whether a pathogenic KAT6B variant would be found, were the presence of hypotonia, thyroid abnormalities, patellar abnormalities, long thumbs and great toes, feeding difficulties and dental anomalies. [nature.com]

  The natural history of KOS also appears rather constant, particularly during the neonatal period, with respiratory distress and laryngeal stridor, and growth retardation—the latter mainly ascribed to feeding difficulties due to poor sucking, pylorospasm [jmg.bmj.com]

• Asymptomatic

  Jaeotot, Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2. Hum. Molec.Genet. 3 (1994) 741–744. PubMed CrossRef Google Scholar David, A., A. Gordeeff, J. Baduoal and J. [link.springer.com]

• Abdominal Obesity

  ORPHA:314621 Renal Hypodysplasia/Aplasia 4 Pulmonary hypoplasia OMIM:619887 Abdominal Obesity-Metabolic Syndrome 4 Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased HDL cholesterol concentration, Increased... [mousephenotype.org]

• Failure to Thrive

  […] to thrive Sparse and thin eyebrow Highly arched eyebrow Hypertonia Hypospadias Microcornea Tapered finger Short palm Carious teeth Pectus excavatum Microphthalmia Microcephaly Abnormality of the skeletal system Strabismus Atrial septal defect Hypoplastic [mendelian.co]

  Dysphagia, nutritional difficulties, and failure to thrive were reported by Pereira et al in 2009. [4] Otolaryngologic manifestations The nasal bridge is depressed, and the midface is typically hypoplastic. [emedicine.medscape.com]

• Heart Disease

  We can help you with your rare disease diagnosis. [mendelian.co]

  Agenesis of the corpus callosum, hydronephrosis and congenital heart disease are frequently present, and thyroid abnormalities have been reported in rare cases. [nature.com]

  Other uncommon anomalies include congenital heart defects and cryptorchidism. [emedicine.medscape.com]

  Telltale signs of congenital heart disease. Radiol Clin North Am 1993; 31: 573–82 PubMed CAS Google Scholar Keats TE. Superior marginal rib defects in restrictive lung disease. [link.springer.com]

  Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls. Circulation. [zora.uzh.ch]

• Hearing Impairment

  impairment, Hydrocephalus, Spinal dysraphism, Hearing impairment... [mousephenotype.org]

  NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B Is also known as hmsn vib, charcot-marie-tooth disease, type 6b;cmt6b Related symptoms: Autosomal recessive inheritance Seizures Global developmental delay Generalized hypotonia Hearing impairment [mendelian.co]

  impairment Deafness Hearing defect [ more ] 0000365 Hypoplasia of teeth 0000685 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Intellectual disability, severe Early and [rarediseases.info.nih.gov]

  Consistent with this finding, Ube3b −/− mice exhibit a severely reduced bodyweight and size, decreased growth rate, muscular hypotonia, mild hearing impairment, and a reduced total cholesterol value, recapitulating several key features of KOS. 12 Of note [jmg.bmj.com]

  Upper airway narrowing and hearing impairment are major issues during infancy. These infants are prone to obstructive sleep apnea and sudden infant death syndrome. [emedicine.medscape.com]

• Psychomotor Retardation

  Systemic Features: There is both intrauterine and postnatal growth retardation. Hypotonia is often noted along with general psychomotor delays. Neonatal respiratory distress and laryngeal stridor may be present. [disorders.eyes.arizona.edu]

  Terminal deletion 14q and duplication 14q in a patient with neonatal hypotonia, psychomotor retardation, intellectual disabilities, short stature and facial dysmorphism has been reported [17]. [medcraveonline.com]

  retardation, hypotonia, delayed growth, and skeletal features (bell shaped thorax with telethelia, long and thin fingers). [jmg.bmj.com]

  Vles, Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: A recognizable entity in surviving patients with the fetal akinesia deformation sequence. Genetic Counselling 2 (1991) 659–75. Google Scholar Verloes, A., P. [link.springer.com]

• Bulbous Nose

  Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth [orpha.net]

  Upturned nostrils [ more ] 0000463 Autosomal dominant inheritance 0000006 Blepharophimosis Narrow opening between the eyelids 0000581 Bulbous nose 0000414 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Cryptorchidism Undescended [rarediseases.info.nih.gov]

  Disease description A syndrome characterized by mental retardation, feeding problems, and distinctive facial appearance with coarse facial features, severe blepharophimosis, ptosis, a bulbous nose, micrognathia and a small mouth. [uniprot.org]

  DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous [mendelian.co]

  Figure 2 2 a, 2 b, 2 c, 2 d show individuals 24, 20, 25 and 7 who all have sequence variants within KAT6B and show typical facial features of blepharophimosis, mask-like face, small mouth and bulbous nose with depressed nasal tip. 2e shows the facial [nature.com]

• Prominent Occiput

  occiput Prominent back of the skull Prominent posterior skull [ more ] 0000269 Proteinuria High urine protein levels Protein in urine [ more ] 0000093 Ptosis Drooping upper eyelid 0000508 Scrotal hypoplasia Smaller than typical growth of scrotum 0000046 [rarediseases.info.nih.gov]

Treatment Treatment Options: No effective treatment has been reported. [disorders.eyes.arizona.edu]

Standard Therapies Treatment Treatment for BPES needs to address both the eyelid malformation and the premature ovarian insufficienty in type I patients. [rarediseases.org]

Philip, MD Assessment of Response to Open-label Treatment With Varenicline in Psychiatric Inpatients Start of enrollment: 2007 Oct 01 Philip, N.S.,Price, L.H. [doximity.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]

Surgical treatment is usually directed toward correcting craniosynostosis, and facial abnormalities may be corrected using the Tessier procedure. [emedicine.medscape.com]

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study. Clin Genet. 2014;85(3):233-44. [gad-bfc.org]

Cardiomyopathy in newborns and infants: a broad spectrum of aetiologies and poor prognosis. Acta Paediatrica, 97(11):1523-1528. Tzschach, A ; Chen, W ; Erdogan, F ; Hoeller, A ; Ropers, H H ; Castellan, Claudio ; Ullmann, R ; Schinzel, A (2008). [zora.uzh.ch]

A definitive clinical and etiologic classification of BMRS is lacking, but closer phenotypic analysis should lead to a more useful appraisal of the BMRS phenotype. [ncbi.nlm.nih.gov]

Altogether, array-CGH helped to determine the etiology of ID in 14 patients (~21 %). [link.springer.com]

Etiology Treacher Collins syndrome is inherited as an autosomal dominant trait with variable expressivity and high penetrance. A recessive form has also been described. [emedicine.medscape.com]

This finding linkedMED12 to neuronal gene expression,and these mutations to the etiology of the XLID syndromes.GRAHAM AND SCHWARTZ 2739These MED12 mutations explain more than the cognitive dys-function in these XLID syndromes. [docslide.com.br]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Relevant External Links for FAT4 Genetic Association Database (GAD) FAT4 Human Genome Epidemiology (HuGE) Navigator FAT4 Atlas of Genetics and Cytogenetics in Oncology and Haematology: FAT4 No data available for Genatlas for FAT4 Gene Identification of [genecards.org]

Hagberg B, Kyllerman M (1983) Epidemiology of mental retardation—a Swedish survey. Brain Dev 5:441–449 PubMed CrossRef Google Scholar 12. [link.springer.com]

Journal of Epidemiology and Community Health, 1994, 48:290-296. 1993 Costello syndrome and facio-cutaneous-skeletal syndrome. Philip N, Mancini J. American Journal of Medical Genetics, 1993, 47:174-175. [germaco.net]

If the appliance fails to prevent obliquity of the occlusal plane, then elongation of the ramus or mandibular distraction is indicated at age 6-12 years during mixed dentition. [emedicine.medscape.com]