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]

• Recurrent Respiratory Infection

  respiratory infections Spotty hypopigmentation Abnormal hair whorl Almond-shaped palpebral fissure Hypointensity of cerebral white matter on MRI Regional abnormality of skin Motor delay Narrow mouth Osteopenia Blepharophimosis Microtia Short palpebral [mendelian.co]

  ORPHA:228308 Congenital Tracheomalacia Recurrent upper respiratory tract infections, Pneumothorax, Partial anomalous pulmonary venous re... [mousephenotype.org]

• Small Widely Spaced Teeth

  widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. [mendelian.co]

• Thin Eyebrows

  eyebrow Thin, sparse eyebrows 0000535 Stenosis of the external auditory canal Narrowing of passageway from outer ear to middle ear 0000402 Thin vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Wide nasal bridge Broad nasal bridge Broad [rarediseases.info.nih.gov]

  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 nipples Ectodermal dysplasia [mendelian.co]

  ORPHA:157 Renal Dysplasia-Limb Defects Syndrome Pneumothorax, Low-set ears, Abnormal pinna morphology, Pulmonary hypoplasia OMIM:266910 Robin Sequence With Distinctive Facial Appearance And Brachydactyly Short palpebral fissure, Thin eyebrow, Telecanthus [mousephenotype.org]

• Hyperkeratosis

  Abnormality of the ureter Sparse hair Neurological speech impairment Abnormality of the kidney Triangular face Hypohidrosis Bilateral single transverse palmar creases Abnormality of dental enamel Sparse eyelashes Abnormal dermatoglyphics Palmoplantar hyperkeratosis [mendelian.co]

  The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. American Journal of Medical Genetics. Part A, 173(5):1440-1443. [zora.uzh.ch]

  ORPHA:1587 Kapur-Toriello Syndrome Retinal coloboma, Intrauterine growth retardation, Microphthalmia OMIM:244300 Autosomal Dominant Non-Syndromic Intellectual Disability Lateral ventricle dilatation ORPHA:178469 Palmoplantar Hyperkeratosis With Squamous [mousephenotype.org]

• Sparse Eyelashes

  […] eyebrow, Sparse eyelashes, Inguinal hernia, Di... [mousephenotype.org]

  […] hair Neurological speech impairment Abnormality of the kidney Triangular face Hypohidrosis Bilateral single transverse palmar creases Abnormality of dental enamel Sparse eyelashes Abnormal dermatoglyphics Palmoplantar hyperkeratosis Aplasia/Hypoplasia [mendelian.co]

• Sparse to No Eyebrows

  […] and thin eyebrow Thin, sparse eyebrows 0000535 Stenosis of the external auditory canal Narrowing of passageway from outer ear to middle ear 0000402 Thin vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Wide nasal bridge Broad nasal [rarediseases.info.nih.gov]

  […] of the eyebrow Abnormality of the ear Hypoplasia of the zygomatic bone EEG abnormality Bilateral cleft lip and palate Sparse lateral eyebrow Dystrophic toenail Bilateral cleft lip Pili torti Anodontia Dystrophic fingernails Abnormality of hair texture [mendelian.co]

• Skin Ulcer

  Ulnar deviation of the hand or of fingers of the hand Clinodactyly of the 5th finger Anal atresia Prominent nasal bridge Eczema Oral cleft Cutaneous photosensitivity Thin skin Split hand Fine hair Abnormality of the face Skin ulcer Abnormality of the [mendelian.co]

• 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]

• Aggressive Behavior

  Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015 ). [mendelian.co]

  Males with FG syndrome can have significant externalizingbehaviors and are at increased risk for aggressive behavior becauseof their deficits in communication skills [Graham et al., 2008].Since most males with FG syndrome have poor GI motility andconstipation [docslide.com.br]

• 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]

• Broad Nasal Bridge

  bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal [rarediseases.info.nih.gov]

  Other minor facial features frequently observed in both types include “lazy” eye (amblyopia), crossed eyes (strabismus), low-set ears, a short distance between the upper lip and nose, and a broad nasal bridge. [rarediseases.org]

  […] 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 nasal tip, and deep-set eyes. [mendelian.co]

  Otolaryngologic manifestations In Waardenburg syndrome, deafness, broad nasal bridge, hypoplastic alae nasi, high-arched or cleft palate, abnormal vestibular function, and hypoplastic ear cartilage are present. [emedicine.medscape.com]

  Typically, patients have a distinctive mask-like face with severe blepharophimosis and ptosis, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip and small, low set ears. [nature.com]

• High Nasal Root

  Disease description Clinically, Lujan-Fryns syndrome can be distinguished from Opitz-Kaveggia syndrome by tall stature, hypernasal voice, hyperextensible digits and high nasal root. [uniprot.org]

  nasal root High narrow palate Dental crowding Maxillary hypoplasia Micrognathia/retrognathia Open mouth Frontal hair upsweep Small ears HandLong hyperextensible digits Broad thumbs Persistent fetal finger pads Horizontal palmar creases Syndactyly NeuromuscularAgenesis [docslide.com.br]

• Round Face

  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]

  Ohdo syndrome isactually a heterogeneous group of disorders characterized byintellectual disability and distinctive facial features, which includeblepharophimosis, ptosis, a round face with a characteristic nose,and a small mouth (Table I, Fig. 3). [docslide.com.br]

• 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]

• Tremor

  Hypoplastic nipples Ectodermal dysplasia Freckling Camptodactyly Finger syndactyly Hyperhidrosis Dry skin Hypodontia Clinodactyly Abnormality of dental morphology Alopecia Abnormality of the dentition Sparse scalp hair Hyporeflexia Myoclonus Broad thumb Tremor [mendelian.co]

  ORPHA:96334 Acrorenal-Mandibular Syndrome Low-set ears, Posteriorly rotated ears, Pulmonary hypoplasia OMIM:200980 Fragile X-Associated Tremor/Ataxia Syndrome Diffuse cerebellar atrophy, Abnormal brainstem morphology ORPHA:93256 Fanconi Anemia, Complementation [mousephenotype.org]

• Delayed Speech and Language Development

  […] symptoms: Uncommon Symptoms - Between 30% and 50% cases Cryptorchidism Hypertelorism Autosomal dominant inheritance Depressed nasal bridge Delayed speech and language development Malar flattening Posteriorly rotated ears Autosomal recessive inheritance [mendelian.co]

• Steppage Gait

  gait High anterior hairline Atrophy/Degeneration affecting the brainstem Absent Achilles reflex Pontocerebellar atrophy Cone dysfunction syndrome Pendular nystagmus Shawl scrotum Short nose Broad foot High forehead Muscular hypotonia of the trunk Deep [mendelian.co]

• Pendular Nystagmus

  […] neuropathy Respiratory failure Acidosis Clonus Visual loss Broad palm Tented upper lip vermilion Steppage gait High anterior hairline Atrophy/Degeneration affecting the brainstem Absent Achilles reflex Pontocerebellar atrophy Cone dysfunction syndrome Pendular [mendelian.co]

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]