Cataract, and Aortic valve stenosis

Diseases related with Cataract and Aortic valve stenosis

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


Top matches:

Low 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

Low match FAMILIAL AORTIC DISSECTION


Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner.

FAMILIAL AORTIC DISSECTION Is also known as aortic aneurysm, familial thoracic|annuloaortic ectasia|cystic medial necrosis of aorta|aortic dissection, familial|aneurysm, thoracic aortic|faa1

Related symptoms:

  • Cataract
  • Flexion contracture
  • Hypertension
  • Dilatation
  • Pectus excavatum


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL AORTIC DISSECTION

Low 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

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Other less relevant matches:

Low 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

Low 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

Low match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Low match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Low match ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Low match ATYPICAL WERNER SYNDROME


Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Low match ACROOSTEOLYSIS DOMINANT TYPE


Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

Top 5 symptoms//phenotypes associated to Cataract and Aortic valve stenosis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Pulmonic stenosis Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Patent ductus arteriosus Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Failure to thrive Ectopia lentis Thickened skin Hypertension Cleft palate Micrognathia Scoliosis Myopia High myopia Abnormality of cardiovascular system morphology Prominent nasal bridge Abnormal heart morphology Low-set ears Joint stiffness Intellectual disability, mild Shallow orbits Global developmental delay Hydrocephalus Microspherophakia Osteoporosis Shallow anterior chamber Glaucoma Mitral regurgitation

Rare Symptoms - Less than 30% cases


High palate Macrocephaly Downslanted palpebral fissures Limitation of joint mobility Abnormal cardiac septum morphology Abnormal facial shape Microphthalmia Short distal phalanx of finger Microcephaly Thin vermilion border Mitral valve prolapse Broad phalanges of the hand Abnormality of the dentition Osteopenia Hernia Narrow face Skeletal dysplasia Wide nose Syndactyly Congestive heart failure Hypertonia Hypoplasia of the corpus callosum Ventriculomegaly Abnormality of the skeletal system Esotropia Generalized hypotonia Seizures Pulmonary arterial hypertension Hypospadias Single transverse palmar crease Long face Joint hyperflexibility Pectus carinatum Abnormality of the voice Aggressive behavior Alopecia Skin ulcer Hyperactivity Posteriorly rotated ears Inguinal hernia Broad skull Cognitive impairment Broad metacarpals Depressed nasal bridge Dilatation Pectus excavatum Coarctation of aorta Aplasia/Hypoplasia of the skin Bicuspid aortic valve Cutis marmorata Coronary artery atherosclerosis Hypoplastic left heart Broad metatarsal Peripheral arterial stenosis Delayed puberty Toe syndactyly Blindness Broad ribs Abnormality of dental morphology Proportionate short stature Narrow palate Lumbar hyperlordosis Spinal canal stenosis Hypoplasia of the maxilla Misalignment of teeth Broad palm Thin bony cortex Brachycephaly Secondary amenorrhea Aplasia/Hypoplasia of the eyebrow Decreased fertility Abnormality of the cerebral vasculature Periventricular leukomalacia Lipoatrophy Glycosuria Osteosarcoma Telangiectasia of the skin Sparse body hair Renal neoplasm Ovarian neoplasm Prematurely aged appearance Meningioma Insulin-resistant diabetes mellitus Neoplasm of the lung Fragile nails Aplasia cutis congenita of scalp Absent toe Abnormal pulmonary valve morphology Osteolytic defects of the phalanges of the hand Venous malformation Absent fingernail Absent hand Aplastic/hypoplastic toenail Chylothorax Porencephalic cyst Progeroid facial appearance Rocker bottom foot Premature graying of hair Hypotrichosis Abnormality of retinal pigmentation Diabetes mellitus Decreased body weight Thin skin Hyperkeratosis Pes planus Hypertriglyceridemia Skeletal muscle atrophy Type II diabetes mellitus Congenital cataract Convex nasal ridge Hip dysplasia Retinal degeneration Hepatic steatosis Hypogonadism Aplasia cutis congenita on trunk or limbs Calf muscle hypertrophy Laryngomalacia Short palm Hyperglycemia Abnormality of the thorax Premature ovarian insufficiency Cutis marmorata telangiectatica congenita Hyperinsulinemia Reduced bone mineral density Aplasia cutis congenita over posterior parietal area Imperforate hymen Neoplasm of the skin Acrania Finger clinodactyly Increased bone mineral density Abnormality of the hair Periventricular cysts Peripheral neuropathy Pili torti Intestinal malrotation Wormian bones Generalized hirsutism Low anterior hairline Short toe Bone pain Bowing of the long bones Full cheeks Osteolysis Recurrent fractures Downturned corners of mouth Iris coloboma Thick eyebrow Dry skin Synophrys Dolichocephaly Abnormality of the fingernails Arnold-Chiari malformation Umbilical hernia Decreased skull ossification Hypoplastic 5th lumbar vertebrae Absent frontal sinuses Rough bone trabeculation Abnormality of the mandible Platybasia Biconcave vertebral bodies Mitral stenosis Periodontitis Coarse hair Hypoplasia of the zygomatic bone Abnormality of the skull Patellar dislocation Multiple renal cysts Syringomyelia Prominent occiput Open bite Telecanthus Coarse facial features Abnormality of the testis Neoplasm of the breast Neoplasm of the thyroid gland Subcutaneous calcification Neoplasm of the small intestine Abnormality of the Achilles tendon Abnormal hair whorl Fasting hyperinsulinemia Aortic valve calcification Generalized lipodystrophy Premature arteriosclerosis Abnormal hair quantity Abnormality of the pulmonary artery White forelock Exercise-induced myalgia Chondrocalcinosis Prominent superficial veins Lack of skin elasticity Intervertebral disc degeneration Neoplasm of the oral cavity Arthralgia Anteverted nares Narrow mouth Recurrent respiratory infections Headache Long philtrum Kyphosis Splenomegaly Short neck Wide nasal bridge Progressive clavicular acroosteolysis Hepatomegaly Esophageal varix Hypertelorism Hearing impairment Abnormality of circulating leptin level Sclerosis of hand bone Patchy hypo- and hyperpigmentation Congenital hepatic fibrosis Muscular hypotonia Abnormality of the upper limb Intellectual disability, moderate Oral cleft Facial asymmetry Small for gestational age Short philtrum Attention deficit hyperactivity disorder Respiratory tract infection Cleft lip Everted lower lip vermilion Joint laxity Anxiety Thin upper lip vermilion Gastroesophageal reflux Macrotia Autism Abnormality of skin pigmentation Tapered finger Clinodactyly of the 5th finger Bipolar affective disorder Agenesis of corpus callosum Midface retrusion Cryptorchidism Six lumbar vertebrae Subvalvular aortic stenosis Broad face Nasal speech Prominent nose Sandal gap Horseshoe kidney Aspiration Anorexia Stereotypy Dental crowding Psychosis Gait ataxia Clinodactyly Cerebral cortical atrophy Atherosclerosis Aortic dissection Dilatation of the cerebral artery Aortic root aneurysm Exertional dyspnea Aortic aneurysm Aortic regurgitation Cardiomegaly Thoracic aortic aneurysm Chest pain Retinal detachment Stroke Coloboma Flexion contracture Short thumb Visual loss Left ventricular failure Abdominal aortic aneurysm Depressivity Ataxia Short nose Behavioral abnormality Frontal bossing Gait disturbance Epicanthus Delayed speech and language development Increased intraocular pressure Ascending aortic dissection Iris flocculi Cystic medial necrosis of the aorta Paroxysmal dyspnea Descending aortic dissection Descending thoracic aorta aneurysm Carotid artery dilatation Cystic medial necrosis Polydactyly Polyhydramnios Pulmonary artery atresia Premature birth Split hand Hemiparesis Small nail Tetralogy of Fallot Nail dysplasia Gastrointestinal hemorrhage Ascites Pachygyria Polymicrogyria Cirrhosis Cleft upper lip Talipes Leukemia Finger syndactyly Encephalocele Telangiectasia Abnormality of the kidney Central hypotonia Hypoplastic fingernail Abnormality of the lower limb Arteriovenous malformation Calvarial skull defect Double outlet right ventricle Pulmonary artery stenosis Oligodactyly Meningitis Aplasia cutis congenita Cutaneous finger syndactyly Cortical dysplasia Supernumerary nipple Portal hypertension Abnormality of the metacarpal bones Leukopenia Sparse hair EEG abnormality Deeply set eye Dandy-Walker malformation Self-injurious behavior Overfolded helix Sacral dimple Microretrognathia Narrow palpebral fissure Narrow forehead Wide intermamillary distance Overlapping toe Hypopigmentation of the skin Thick vermilion border Bulbous nose Ichthyosis Smooth philtrum Low-set, posteriorly rotated ears Muscular hypotonia of the trunk 2-3 toe syndactyly Ectopic kidney Cerebellar hypoplasia Olivopontocerebellar hypoplasia Thrombocytopenia Atrial septal defect Talipes equinovarus Intrauterine growth retardation Strabismus Growth delay Hypoplastic aortic arch Broad hallux Spotty hypopigmentation Long neck Otosclerosis Overlapping fingers Narrow nose Epiphyseal stippling Long fingers Partial absence of toe



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