Cataract, and Pulmonic stenosis

Diseases related with Cataract and Pulmonic stenosis

In the following list you will find some of the most common rare diseases related to Cataract and Pulmonic stenosis that can help you solving undiagnosed cases.


Top matches:

Medium match WEILL-MARCHESANI SYNDROME


Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.

WEILL-MARCHESANI SYNDROME Is also known as spherophakia-brachymorphia syndrome

Related symptoms:

  • Short stature
  • Cataract
  • Brachydactyly
  • Ventricular septal defect
  • Intellectual disability, mild


SOURCES: ORPHANET MENDELIAN

More info about WEILL-MARCHESANI SYNDROME

Medium match PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

Medium match CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4

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Other less relevant matches:

Medium match GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME


Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).

GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME Is also known as gemss|mesodermal dysmorphodystrophy, congenital|gemss syndrome|weill-marchesani syndrome, autosomal dominant|glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome|spherophakia-brachymorphia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME

Medium match WEILL-MARCHESANI SYNDROME 1; WMS1


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by Dagoneau et al., 2004). Genetic Heterogeneity of Weill-Marchesani SyndromeA phenotypically similar, autosomal dominant form of WMS (WMS2 ) is caused by mutation in the FBN1 gene (OMIM ) on chromosome 15q21. Autosomal recessive WMS3 (OMIM ) is caused by mutation in the LTBP2 gene (OMIM ) on chromosome 14q24. Autosomal recessive WMS4 (OMIM ) is caused by mutation in the ADAMTS17 gene (OMIM ) on chromosome 15q24.

WEILL-MARCHESANI SYNDROME 1; WMS1 Is also known as weill-marchesani syndrome, autosomal recessive|mesodermal dysmorphodystrophy, congenital|spherophakia-brachymorphia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about WEILL-MARCHESANI SYNDROME 1; WMS1

Medium match CRANIOLENTICULOSUTURAL DYSPLASIA


Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Medium match ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME


Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

Medium match WEILL-MARCHESANI SYNDROME 3; WMS3


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of WMS, see {277600}.

Related symptoms:

  • Short stature
  • Brachydactyly
  • Myopia
  • Joint stiffness
  • Pulmonic stenosis


SOURCES: OMIM MENDELIAN

More info about WEILL-MARCHESANI SYNDROME 3; WMS3

Medium match CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE


Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Medium match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

Top 5 symptoms//phenotypes associated to Cataract and Pulmonic stenosis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Myopia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Intellectual disability, mild Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Pulmonic stenosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Ventricular septal defect Glaucoma Brachydactyly Global developmental delay Muscular hypotonia Congenital cataract Aortic valve stenosis Ectopia lentis Strabismus Motor delay Joint stiffness Depressed nasal bridge Cerebellar hypoplasia Hypoplasia of the maxilla Atrial septal defect Microspherophakia Shallow anterior chamber High palate Optic atrophy Seizures Thickened skin Mitral regurgitation High myopia Brachycephaly

Rare Symptoms - Less than 30% cases


Wide nasal bridge Macrocephaly Patent ductus arteriosus Cerebral cortical atrophy Blindness Frontal bossing Anteverted nares Shallow orbits Abnormal heart morphology Thin bony cortex Visual impairment Delayed speech and language development Broad phalanges of the hand Broad skull Broad metacarpals Broad metatarsal Broad ribs Lumbar hyperlordosis Misalignment of teeth Malar flattening Spinal canal stenosis Proportionate short stature Broad palm Abnormality of dental morphology Narrow palate Neonatal hypotonia Hypoplasia of the corpus callosum Polymicrogyria Respiratory insufficiency Limitation of joint mobility Hypertelorism Micrognathia Epicanthus Mask-like facies Downslanted palpebral fissures Flexion contracture Areflexia High forehead Severe global developmental delay Epiphyseal stippling Prominent nose Abnormal cerebellum morphology Nystagmus Cleft palate Intellectual disability, severe Bradycardia Holoprosencephaly Congenital muscular dystrophy Aplasia/Hypoplasia of the corpus callosum Hypermetropia Plagiocephaly Generalized muscle weakness Brain atrophy Lissencephaly Pachygyria Cerebellar vermis hypoplasia Encephalocele Congenital hip dislocation Knee flexion contracture Hemivertebrae Retinal detachment EMG abnormality Preauricular skin tag Arthrogryposis multiplex congenita Abnormality of the pinna Abnormality of the cerebral white matter Myopathy Craniofacial asymmetry Truncal titubation Frontal cortical atrophy Increased intraocular pressure Muscle weakness Intrauterine growth retardation Skeletal muscle atrophy Gait disturbance Ventriculomegaly Respiratory distress Hydrocephalus Microphthalmia Dolichocephaly Dilatation Pectus excavatum Elevated serum creatine phosphokinase Agenesis of corpus callosum EEG abnormality Rigidity Apnea Skeletal muscle hypertrophy Camptodactyly of finger Hip dislocation Muscular dystrophy Dilated cardiomyopathy Hypoplasia of the brainstem Sensorineural hearing impairment Increased variability in muscle fiber diameter Rhizomelia Upslanted palpebral fissure Kyphoscoliosis Cleft lip Dry skin Ichthyosis Flat face Pulmonary hypoplasia Short distal phalanx of finger Limb undergrowth Congenital diaphragmatic hernia Abnormality of the metaphysis Abnormality of epiphysis morphology Spina bifida occulta Alopecia Epiphyseal dysplasia Congenital contracture Flared metaphysis Sparse body hair Severe failure to thrive Polysplenia Concave nasal ridge Delayed CNS myelination Multiple epiphyseal dysplasia Coronal cleft vertebrae Bilateral cleft palate Calcific stippling of infantile cartilaginous skeleton Severe short stature Hernia Calf muscle hypertrophy Cerebellar dysplasia Multiple joint contractures Generalized amyotrophy Cortical dysplasia Spinal rigidity Transposition of the great arteries Weak cry Atrophy/Degeneration affecting the brainstem Anencephaly Ankle contracture Retinal dysplasia Myocardial fibrosis Buphthalmos Type II lissencephaly Abnormality of metabolism/homeostasis Exaggerated startle response Cerebellar cyst Agyria Hypoglycosylation of alpha-dystroglycan Thoracic hemivertebrae Cephalocele Hypoplasia of the pyramidal tract Microcephaly Growth delay Broad distal phalanx of finger Pain Spasticity Abnormality of the dentition Scanning speech Dysarthria Abnormality of the pulmonary artery Gastroesophageal reflux Multiple lentigines Abnormality of lateral ventricle Abnormal ventricular septum morphology Osteoporosis Mitral valve prolapse Failure to thrive Abnormal facial shape Cryptorchidism Long philtrum Midface retrusion Prominent forehead Osteopenia B-cell lymphoma Skeletal dysplasia Pes planus Thin upper lip vermilion Joint laxity Wide mouth Sparse hair Prominent nasal bridge Narrow chest Carious teeth Joint hyperflexibility Smooth philtrum Abnormality of skin pigmentation Abnormal aortic valve morphology Heat intolerance Wide nose Perimembranous ventricular septal defect Abnormality of cardiovascular system morphology Visual loss Short thumb Low-set ears Feeding difficulties Hepatomegaly Congestive heart failure Broad forehead Round face Decreased fetal movement Secundum atrial septal defect Right aortic arch Acute lymphoblastic leukemia Generalized neonatal hypotonia Neoplasm Hyperhidrosis Telecanthus Leukemia Lymphoma Growth hormone deficiency Narrow forehead Optic nerve hypoplasia Hyperextensible skin Absent eyebrow Abnormality of the sternum Thin vermilion border Delayed eruption of teeth Titubation Apraxia Reduced visual acuity Mandibular prognathia Muscular hypotonia of the trunk Coloboma Corneal opacity Neurological speech impairment Synophrys Abnormality of movement Unsteady gait High, narrow palate Hypopigmentation of the skin Involuntary movements Absent speech Limb ataxia Low anterior hairline Poor head control Slurred speech Bilateral ptosis Postural tremor Brisk reflexes Aniridia Hypoplasia of the iris Hearing abnormality Hypoplasia of the fovea Speech apraxia Gait ataxia Cerebral atrophy Bifid uvula Decreased skull ossification Esotropia Microdontia Large fontanelles Hyperpigmentation of the skin Wide anterior fontanel Hemangioma Coarse hair Prominent supraorbital ridges Brittle hair Premature loss of teeth Capillary hemangioma Delayed closure of the anterior fontanelle Cerebellar atrophy Hypoplasia of teeth Narrow iliac wings High iliac wings Sutural cataract Posterior Y-sutural cataract Posterior wedging of vertebral bodies Punctate cataract Forehead hyperpigmentation Ataxia Ptosis Cognitive impairment Tremor Pregnancy exposure



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