[…] with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome: 60 33 (show all 34) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508 2 intellectual disability [malacards.org]

1 Causes of Biparietal Narrowing : 15q14 Microdeletion Syndrome 16q24.3 Microdeletion Syndrome 1q44 Microdeletion Syndrome 3q29 Microduplication 8p23.1 Microdeletion Syndrome Allan-Herndon-Dudley Syndrome Alopecia-Contractures-Dwarfism-Intellectual Disability [familydiagnosis.com]

Intellectual Disability Intellectual disability, autosomal recessive Intellectual Disability Intellectual disability, syndromal Intellectual Disability Intellectual disability, X-linked Intellectual Disability Joubert syndrome Intellectual Disability [genomediagnosticsnijmegen.nl]

Part 1 - Recognised Disabilities Moderate to severe multiple disability or moderate to severe physical disability (including neurological disability) where the child is, or is likely to be, dependent for mobility indoors and outdoors from the age of three [dss.gov.au]

Some children with SOD have normal intelligence, while others may be developmentally delayed, learning disabled, or intellectually disabled. Some symptoms of this disorder can be treated, but the visual impairment usually cannot be corrected. [tsbvi.edu]

[…] frequent (33%) Frequent (79-30%) HP:0002093 7 short nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196 8 anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0000463 9 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505 10 short [malacards.org]

Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent [nectarmutation.org]

JS is a skeletal ciliopathy characterized by small thorax, short-limbed short stature, fibrocystic renal disease and retinal degeneration. [clinicaltrials.gov]

The optic nerves swell and become damaged DeGrouchy’s Syndrome A person who has DeGrouchy’s will have a short stature, hypotonia (lack of muscle tone), hearing impairment, and foot abnormalities. [tsbvi.edu]

Jeune asphyxiating thoracic dystrophy (JATD) is characterized by abnormal bone growth resulting in short stature, small thoracic cage and hypoplastic lungs, chronic tubulointerstitial nephritis, and CHF [ Hudgins et al 1992 ]. [ncbi.nlm.nih.gov]

Purple/Blue ribbon GNA01 Gene Mutation Disorder - The awareness ribbon is colored purple and blue with the words "Epilepsy" written on the purple part and "Movement Disorder" written on the blue part. [disabled-world.com]

disorders (WES) Neurological Muscle disorders (WES) Neurological Neurodegeneration due to cerebral folate transport deficiency Neurological Neurodegeneration with brain iron accumulation Neurological Neuropathies (WES) Neurological Parkinson disease [genomediagnosticsnijmegen.nl]

Hyperkinetic movement disorders in children. In: UpToDate Online Journal [serial online]. Waltham, MA: UpToDate; updated April 2007. Weber S, Tonshoff B. [aetna.com]

disorder Approved pyrimethamine acute lymphoblastic leukemia post unrelated transplant, toxoplasmosis prophylaxis Approved pyrimethamine acute ocular toxoplasmosis Approved pyrimethamine AML, Graft Versus Host Disease, neutropenia Approved pyrimethamine [pharmac.govt.nz]

Polychondritis Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency Smith-Lemli-Opitz Syndrome Tetraploidy Toluene Embryopathy X-Linked Intellectual Disability, Cabezas Type XY Type Gonadal Dysgenesis-Associated Anomalies Syndrome • • [familydiagnosis.com]

insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093 7 short nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196 8 anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0000463 9 visual impairment 60 33 frequent (33%) Frequent (79- [malacards.org]

insufficiency due to muscle weakness Abnormal facial shape Progressive microcephaly Trophic changes related to pain Retinal coloboma Hemiplegia Bilateral sensorineural hearing impairment Feeding difficulties Single naris Microcephaly Scoliosis Motor [mendelian.co]

Approximately 30% of affected infants die in the neonatal period or within the first year of life primarily of respiratory insufficiency or superimposed pulmonary infections. [ncbi.nlm.nih.gov]

COACH syndrome has many of the same features as Joubert syndrome, with the addition of liver fibrosis that is present at birth. [sema4genomics.com]

Given that Public Health Relevance Joubert syndrome and related disorders (JSRD) provide a model for studying intellectual disability, ataxic cerebral palsy, retinal dystrophy, cystic kidney disease and liver fibrosis. [grantome.com]

fibrosis Juvenile subtype associated with mutations in NPHP1 ( OMIM 256100 ) (chromosome 2q), 4 (chromosome 1p) Infantile subtype associated with NPHP2 (chromosome 9q) Adolescent subtype associated with NPHP3 (chromosome 3q) Electron microscopy description [pathologyoutlines.com]

Some of these genes have also been associated with extra-renal features such as retinal dystrophy, liver fibrosis, and pancreatic cysts. [invitae.com]

Using exome sequencing, we describe a syndrome associated with homozygous loss of Acyl CoA Oxidase 2 ( ACOX2 ) featuring elevated transaminase levels, liver fibrosis, ataxia, and cognitive impairment. [pnas.org]

Dysplasia With Severe Combined Immunodeficiency Smith-Lemli-Opitz Syndrome Tetraploidy Toluene Embryopathy X-Linked Intellectual Disability, Cabezas Type XY Type Gonadal Dysgenesis-Associated Anomalies Syndrome • • • Back to: « Biparietal narrowing Causes [familydiagnosis.com]

These include growth retardation, urine concentrating defects (polyuria and polydipsia), skeletal dysplasia, anemia, and progressive renal failure. [emedicine.medscape.com]

dysplasia Skeletal Small Patella syndrome Skeletal Spondyloepimetaphysal dysplasia Skeletal Spondyloepiphyseal dysplasia Skeletal Spondyloepiphyseal dysplasia tarda (SEDT) Skeletal Stickler syndrome Skeletal Thanatofore dysplasia Skeletal Torg-Winchester [genomediagnosticsnijmegen.nl]

These include growth retardation, urine concentrating defects, skeletal dysplasia, and progressive renal failure. Some degree of hepatic fibrosis and biliary duct enlargement is usually present. [homeopathyworldcommunity.ning.com]

Human phenotypes related to Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome: 60 33 (show all 34) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 ptosis 60 33 hallmark [malacards.org]

Defect Joubert Syndrome With Renal Defect Lathosterolosis LIG4 Syndrome Linear Nevus Sebaceus Syndrome Macrocephaly / Autism Syndrome Macrocephaly, Benign Familial Monosomy 18q Mosaic Trisomy 9 Mucolipidosis Type IV Non-Distal Monosomy 10q Peho Syndrome Ptosis-Upper [familydiagnosis.com]

Pterygium (wedge-shaped growth that may affect conjunctiva cornea) Epicanthus (vertical skin fold on either side of the nose Ptosis (droopy eyelids) Color blindness. [tsbvi.edu]

[…] frequent symptoms Patients with Hearing impairment and Encephalocele. may also develop some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Intellectual disability Global developmental delay Cleft palate Hypoplasia of the brainstem Ptosis [mendelian.co]

This facial dysmorphism encompasses long face, frontal prominence, bitemporal narrowing, ptosis, prominent nasal bridge and tip, prognathism, eyebrow abnormalities, trapezoid shaped mouth, lower lip eversion, and thick ear lobes. [jscimedcentral.com]

impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505 10 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 11 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276 12 abnormality of movement 60 33 frequent (33%) Frequent [malacards.org]

Some symptoms of this disorder can be treated, but the visual impairment usually cannot be corrected. [tsbvi.edu]

impairment Myopia Poor speech Microphthalmia Elevated serum creatine phosphokinase Polyhydramnios Glaucoma Reduced visual acuity Neonatal hypotonia Retinal degeneration Blindness Neoplasm Upslanted palpebral fissure Syndactyly Neural tube defect Vertebral [mendelian.co]

Rehabilitation strategies must be planned for cognitive and behavioral difficulties and specific manifestations such as the visual impairment. [ojrd.biomedcentral.com]

Impairment (CVI) Awareness Disabled Children Dyslexia Elderly Abuse Encephalitis Essential Tremor Gynaecological Cancer awareness (NZ) Kienbock's Disease (Silver and Black) Medical Device Injury Awareness Niemann-Pick Ovarian cancer awareness (Australia [disabled-world.com]

[…] frequent (33%) Frequent (79-30%) HP:0004322 11 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276 12 abnormality of movement 60 33 frequent (33%) Frequent (79-30%) HP:0100022 13 glossoptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000162 14 strabismus [malacards.org]

Hyperplasia of iris Narrow palpebral fissures (the opening between upper and lower eyelids) High myopia Strabismus Cataracts Grey spots on the iris Duane’s Syndrome A congenital rare type of strabismus. [tsbvi.edu]

COLLINS SYNDROME 1; TCS1 Is also known as treacher collins-franceschetti syndrome;tcof, treacher collins syndrome;tcs, mandibulofacial dysostosis;mfd1 Related symptoms: Autosomal dominant inheritance Intellectual disability Hearing impairment Micrognathia Strabismus [mendelian.co]

Patient and Methods Clinical Report The proband is a 6-year-old girl, referred to our department, who presented with generalized hypotonia, ataxia, speech delay, low-set ears, ptosis, strabismus, clinodactyly, and a history of psychomotor developmental [karger.com]

Primary position nystagmus is also common, while occasionally associated features include strabismus and ptosis. [ojrd.biomedcentral.com]

posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368 25 meningocele 60 33 frequent (33%) Frequent (79-30%) HP:0002435 26 blepharophimosis 60 33 frequent (33%) Frequent (79-30%) HP:0000581 27 abnormality of the eye 60 Frequent [malacards.org]

Human phenotypes related to Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome: 60 33 (show all 34) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 ptosis 60 33 hallmark [malacards.org]

SELECTED GENES FOR YOUR SLICE SUGGESTED CUSTOM SLICES Customize below OR enter Suggested Slice ID on printed requisition form (e.g. 706 XomeDx Slice - Slice ID: CS-Albinism). [genedx.com]

Although the manifestations in these two sisters are similar to the Smith-Lemli-Opitz and Meckel syndromes respectively, there are sufficient differences to suggest that they had a separate autosomal recessive MCA-MR syndrome. [ncbi.nlm.nih.gov]

Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including RPGRIP1L, influence the clinical outcome. [ [nectarmutation.org]

Primitive cartilage and ductules are present, suggesting aberration of renal differentiation, the hallmark of dysplasia. [adc.bmj.com]

Phenotypic abnormalities associated with Fragile X syndrome include developmental delay/intellectually disability, autistic behaviors, characteristic narrow face with large jaw, and speech and language disorders. [aetna.com]

Source Accession 1 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508 2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249 3 congenital hepatic fibrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002612 4 nystagmus [malacards.org]

Congenital cataracts Infantile glaucoma Nystagmus Marchesani's Syndrome This is an autosomal recessive syndrome that results in multiple skeletal abnormalities. [tsbvi.edu]

The boy demonstrated poor language development, bidirectional horizontal gaze-evoked nystagmus, instability of stance, and wide-based ataxic gait; he was unable to stand and walk without major assistance. [jscimedcentral.com]

Retrognathia Micropenis Neurodegeneration Abnormality of the pinna Iris coloboma Preauricular skin tag Hydranencephaly Large fontanelles Hypoplasia of the corpus callosum Dyspnea Retinopathy Apnea Pulmonary hypoplasia Apraxia Gait disturbance Hepatic fibrosis Nystagmus [mendelian.co]

Primary position nystagmus is also common, while occasionally associated features include strabismus and ptosis. [ojrd.biomedcentral.com]

encephalocele 33 HP:0002085 32 agenesis of cerebellar vermis 33 HP:0002335 33 postaxial polydactyly 33 HP:0100259 34 periportal fibrosis 33 HP:0001405 [malacards.org]

Meckel syndrome often manifests before birth and is characterized by occipital encephalocele, brain malformations, facial dysmorphism, renal agenesis, and extra digits. [sema4genomics.com]

encephalocele Polydactyly Craniofacial dysplasia Small to normal-sized kidneys Polydipsia and polyuria Mild proteinuria with benign urinary sediment ESRD possibly during childhood Zellweger syndrome (cerebrohepatorenal syndrome) Brain and liver defects [msdmanuals.com]

Other common features seen in subsets of JSRD patients include, fibrocystic renal disease, congenital hepatic fibrosis, retinal degeneration, retinal colobomas, occipital encephalocele, and polydactyly. [clinicaltrials.gov]