Cataract, and Coarctation of aorta

Diseases related with Cataract and Coarctation of aorta

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


Top matches:

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 OSTEOGENESIS IMPERFECTA TYPE 2


Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

OSTEOGENESIS IMPERFECTA TYPE 2 Is also known as osteogenesis imperfecta congenita, perinatal lethal form|osteogenesis imperfecta congenita|oi type 2|lethal osteogenesis imperfecta|oi, type ii|oic|vrolik type of osteogenesis imperfecta

Related symptoms:

  • Microcephaly
  • Cataract
  • Respiratory insufficiency
  • Congestive heart failure
  • Abnormality of the dentition


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 2

Low match BLOMSTRAND LETHAL CHONDRODYSPLASIA


Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.

BLOMSTRAND LETHAL CHONDRODYSPLASIA Is also known as blomstrand chondrodysplasia|blomstrand osteochondrodysplasia|chondrodysplasia, blomstrand type|bocd|blc

Related symptoms:

  • Micrognathia
  • Cataract
  • Low-set ears
  • Depressed nasal bridge
  • Anteverted nares


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOMSTRAND LETHAL CHONDRODYSPLASIA

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Other less relevant matches:

Low match CATARACT 36; CTRCT36


CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

Low match HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME


Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

Related symptoms:

  • Cataract
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

Low match 1Q21.1 MICRODELETION SYNDROME


1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Low match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

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 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR


The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Top 5 symptoms//phenotypes associated to Cataract and Coarctation of aorta

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Abnormal heart morphology Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Coarctation of aorta. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intrauterine growth retardation Depressed nasal bridge Strabismus Generalized hypotonia Short stature Cleft palate Growth delay Anteverted nares Cognitive impairment Abnormality of the skeletal system Ventricular septal defect Premature birth Atrial septal defect Abnormality of cardiovascular system morphology Muscular hypotonia Micrognathia Microphthalmia Patent ductus arteriosus Abnormal cardiac septum morphology Talipes equinovarus Clinodactyly of the 5th finger Hypoplastic left heart

Rare Symptoms - Less than 30% cases


Wide nasal bridge Tetralogy of Fallot Glaucoma Rhizomelia Leukemia Malar flattening Finger syndactyly Ventriculomegaly Long philtrum Short nose Edema Attention deficit hyperactivity disorder Toe syndactyly Low-set ears Broad thumb Deeply set eye Aggressive behavior Hydrocephalus Osteopenia Frontal bossing Abnormal facial shape Sensorineural hearing impairment Failure to thrive Abnormality of the kidney Behavioral abnormality Anxiety Depressivity Hearing impairment Agenesis of corpus callosum Hyperactivity Autism Epicanthus Scoliosis Polyhydramnios Ascites Bicuspid aortic valve Platyspondyly Small for gestational age Pneumonia Duodenal atresia Abnormality of the upper limb Cutis marmorata Aortic regurgitation Bowing of the long bones Anemia Aortic valve stenosis Motor delay Hypoplasia of the corpus callosum Hypertonia Dilatation Hypertension Blue sclerae Bulbous nose Thrombocytopenia Cerebellar hypoplasia Polymicrogyria Abnormality of the metacarpal bones Meningitis Eczema Cerebral calcification Delayed myelination Asthma Leukopenia Nausea Dry skin Abnormality of the cerebral white matter Aplasia cutis congenita Pruritus Sparse hair Reduced phenylalanine hydroxylase activity Phenylpyruvic acidemia Spontaneous abortion Maternal hyperphenylalaninemia Brachydactyly Skin rash Portal hypertension Abnormality of the liver Syndactyly Supernumerary nipple Cortical dysplasia Postnatal growth retardation Alopecia Aplasia/Hypoplasia of the skin Cutaneous finger syndactyly Psychosis Prominent nasal bridge Prenatal maternal abnormality Pulmonic stenosis Short distal phalanx of finger Gastrointestinal hemorrhage Esotropia Hyperphenylalaninemia Nail dysplasia Body odor Cirrhosis Folate deficiency Pulmonary arterial hypertension Cleft upper lip Mood changes Abnormal posturing Talipes Small nail Microphakia Increased level of hippuric acid in urine Hemiparesis Generalized hypopigmentation Fair hair Split hand Encephalocele EEG abnormality Telangiectasia Blue irides Self-mutilation Poor coordination Iron deficiency anemia Scleroderma Malnutrition Obsessive-compulsive behavior Pachygyria Esophageal varix Oligodactyly Chromosome breakage Cavum septum pellucidum Aplasia of the uterus Fused cervical vertebrae Seborrheic dermatitis Patellar aplasia Allergy Delayed CNS myelination Aplastic anemia Cardiorespiratory arrest Fibular aplasia Patellar dislocation Carpal synostosis Nevus flammeus Megalocornea Absent radius Focal impaired awareness seizure Intracranial hemorrhage Hypoplasia of the radius Pancreatic cysts Carpal bone hypoplasia Eosinophilia Aplasia/hypoplasia of the humerus Axial malrotation of the kidney Shoulder muscle hypoplasia Tetraphocomelia Lactose intolerance Edema of the dorsum of feet Tibial torsion Amegakaryocytic thrombocytopenia Nevus flammeus of the forehead Edema of the dorsum of hands Phocomelia Intermittent thrombocytopenia Renal malrotation Bilateral radial aplasia Meckel diverticulum Abnormality of the shoulder Aplasia/Hypoplasia of the ulna Cervical ribs Generalized tonic-clonic seizures with focal onset Lateral clavicle hook Genu varum Adducted thumb Central hypotonia Aplasia cutis congenita of scalp Cutis marmorata telangiectatica congenita Absent toe Abnormal pulmonary valve morphology Venous malformation Absent fingernail Absent hand Aplastic/hypoplastic toenail Chylothorax Periventricular leukomalacia Imperforate hymen Porencephalic cyst Congenital hepatic fibrosis Pulmonary artery atresia Hypoplastic fingernail Abnormality of the lower limb Arteriovenous malformation Calvarial skull defect Double outlet right ventricle Pulmonary artery stenosis Periventricular cysts Acrania Hemangioma Decreased antibody level in blood Coxa valga Horseshoe kidney Spina bifida Short phalanx of finger Left ventricular hypertrophy Cerebellar vermis hypoplasia Ventricular hypertrophy Focal-onset seizure Intestinal malrotation Aplasia cutis congenita over posterior parietal area Sepsis Severe global developmental delay Hip dislocation Cleft lip Hepatosplenomegaly Brachycephaly Intellectual disability, severe Ptosis Aplasia cutis congenita on trunk or limbs Irritability Multicystic kidney dysplasia Headache Telecanthus Hydrops fetalis Abnormality of epiphysis morphology Limb undergrowth Short metacarpal Pulmonary hypoplasia Micromelia Narrow chest Skeletal dysplasia Short ribs Proptosis Absent ossification of calvaria Crumpled long bones Beaded ribs Abnormality of calvarial morphology Broad long bones Multiple prenatal fractures Increased bone mineral density Accelerated skeletal maturation Pulmonary insufficiency Aplastic clavicle Advanced tarsal ossification Distal shortening of limbs Squared iliac bones Broad clavicles Advanced ossification of carpal bones Synostosis of joints Neonatal short-limb short stature Metaphyseal cupping Flared metaphysis Lethal skeletal dysplasia Generalized osteosclerosis Protuberant abdomen Protruding tongue Natal tooth Mesomelia Short thorax Lens luxation Nonimmune hydrops fetalis Abnormality of metabolism/homeostasis Coronary artery atherosclerosis Thoracic aortic aneurysm Left ventricular failure Peripheral arterial stenosis Aortic dissection Dilatation of the cerebral artery Aortic root aneurysm Exertional dyspnea Aortic aneurysm Ascending aortic dissection Atherosclerosis Cardiomegaly Chest pain Retinal detachment Stroke Coloboma Pectus excavatum Abdominal aortic aneurysm Cystic medial necrosis Tibial bowing Convex nasal ridge Metaphyseal widening Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Wormian bones Large fontanelles Thin skin Recurrent fractures Carotid artery dilatation Abnormality of the dentition Congestive heart failure Respiratory insufficiency Iris flocculi Cystic medial necrosis of the aorta Paroxysmal dyspnea Descending aortic dissection Descending thoracic aorta aneurysm Laryngeal calcification Cryptorchidism Vomiting Finger clinodactyly Myelodysplasia Abnormality of vision Sleep apnea Aplasia/Hypoplasia of the corpus callosum Holoprosencephaly Microretrognathia Osteolysis Flexion contracture Aplasia/Hypoplasia of the cerebellum Cafe-au-lait spot Depressed nasal ridge Short palpebral fissure Ambiguous genitalia Sloping forehead Dandy-Walker malformation Growth hormone deficiency Nephroblastoma Colon cancer Wide nose Abnormal aortic morphology Tremor Hyperreflexia Spasticity Vaginal neoplasm Premature chromatid separation Epidermoid cyst Increased nuchal translucency Stomach cancer Atrioventricular canal defect Rhabdomyosarcoma Subvalvular aortic stenosis Intestinal polyposis Abnormality of the skull Acute lymphoblastic leukemia Abnormal lung lobation Abnormality of immune system physiology Multiple cafe-au-lait spots Triangular face Long face High palate Iris coloboma High hypermetropia Broad hallux Hand polydactyly Schizophrenia Vesicoureteral reflux Sleep disturbance Short foot Joint hypermobility Foot polydactyly Joint hyperflexibility Autistic behavior Intellectual disability, moderate Joint laxity Hydronephrosis Inguinal hernia Macrocephaly Transposition of the great arteries Truncus arteriosus Abnormality of skin pigmentation Low-set, posteriorly rotated ears Dolichocephaly Muscular dystrophy Corneal opacity Blepharophimosis Craniosynostosis Abnormality of the eye Apnea High forehead Broad hallux phalanx Hypothyroidism Delayed skeletal maturation Clinodactyly Intellectual disability, mild Downslanted palpebral fissures Neoplasm Ankyloglossia Interrupted aortic arch Cow milk allergy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Neutropenia, related diseases and genetic alterations Dysarthria and Spina bifida, related diseases and genetic alterations Obesity and Sloping forehead, related diseases and genetic alterations Cleft palate and Agenesis of corpus callosum, related diseases and genetic alterations Micrognathia and Webbed neck, related diseases and genetic alterations

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