Cataract, and Tetralogy of Fallot

Diseases related with Cataract and Tetralogy of Fallot

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


Top matches:

Low match 1Q21.1 MICRODUPLICATION SYNDROME


1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Low match FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME


Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.

FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME Is also known as alx1-related frontonasal dysplasia|frontonasal dysplasia type 3

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME

Low match ACRO-RENAL-OCULAR SYNDROME


Acro-renal-ocular syndrome (AROS) is a syndrome of multiple congenital anomalies and is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4>/i> related disorders including Okihiro syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about ACRO-RENAL-OCULAR SYNDROME

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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 TOWNES-BROCKS SYNDROME


Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.

TOWNES-BROCKS SYNDROME Is also known as renal-ear-anal-radial syndrome|tbs|rear syndrome|townes syndrome|imperforate anus with hand, foot and ear anomalies|sensorineural deafness with imperforate anus and hypoplastic thumbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about TOWNES-BROCKS SYNDROME

Low match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

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 FRONTONASAL DYSPLASIA 1; FND1


The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Top 5 symptoms//phenotypes associated to Cataract and Tetralogy of Fallot

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microphthalmia Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Tetralogy of Fallot. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypoplasia of the corpus callosum Wide nasal bridge Epicanthus Cleft palate Seizures Abnormal heart morphology Intrauterine growth retardation Intellectual disability, mild Abnormality of cardiovascular system morphology Short stature Global developmental delay Scoliosis Hypertelorism Failure to thrive Talipes equinovarus Talipes Preauricular skin tag Hearing impairment Conductive hearing impairment Brachycephaly Agenesis of corpus callosum Brachydactyly Growth delay Ptosis Chorioretinal coloboma Alopecia Iris coloboma Hydrocephalus Coloboma Toe syndactyly Hypertonia Behavioral abnormality Spasticity Anxiety Hypoplasia of the maxilla Hypospadias Cryptorchidism

Rare Symptoms - Less than 30% cases


Crossed fused renal ectopia Vesicoureteral reflux Abnormality of the skeletal system Triphalangeal thumb Dilatation Abnormality of the thumb Broad hallux phalanx Preaxial hand polydactyly Joint contracture of the hand Decreased testicular size Anal atresia Patent ductus arteriosus Cupped ear Absent toe Abnormal pulmonary valve morphology Calvarial skull defect Hyperreflexia Ventricular septal defect Long philtrum Encephalocele Upslanted palpebral fissure Clinodactyly of the 5th finger Renal hypoplasia Abnormality of the ribs Sensorineural hearing impairment Camptodactyly Abnormal cardiac septum morphology Abnormality of the kidney Sparse hair Hypothyroidism Postnatal growth retardation Finger syndactyly Nystagmus Anteverted nares Broad columella Facial cleft Hypoplastic left heart Underdeveloped nasal alae Cognitive impairment Coarctation of aorta Motor delay Attention deficit hyperactivity disorder Bifid nose Osteopenia Intellectual disability, moderate Autism Hyperactivity Frontal bossing Macrocephaly Muscular hypotonia Generalized hypotonia Widow's peak Cleft lip Pectoral muscle hypoplasia/aplasia Lipoma of corpus callosum Cranium bifidum occultum Hypertension Body odor Cerebral calcification Esotropia Nail dysplasia Delayed myelination Pulmonary arterial hypertension Small nail Asthma Hyperphenylalaninemia Hemiparesis Split hand Generalized hypopigmentation Telangiectasia Nausea Pachygyria Gastrointestinal hemorrhage Aortic valve stenosis Dry skin Abnormal posturing Meningitis Leukopenia Bicuspid aortic valve Abnormality of the metacarpal bones Supernumerary nipple Portal hypertension Mood changes Prenatal maternal abnormality Eczema Ventriculomegaly Malnutrition Maternal hyperphenylalaninemia Self-mutilation Syndactyly Blue irides Poor coordination Iron deficiency anemia Thrombocytopenia Cerebellar hypoplasia Scleroderma Fair hair EEG abnormality Prominent nasal bridge Leukemia Pulmonic stenosis Premature birth Reduced phenylalanine hydroxylase activity Obsessive-compulsive behavior Spontaneous abortion Cleft upper lip Folate deficiency Psychosis Phenylpyruvic acidemia Cirrhosis Polymicrogyria Increased level of hippuric acid in urine Microphakia Short distal phalanx of finger Ascites Cutis marmorata Depressed nasal bridge Cortical dysplasia Easy fatigability Partial agenesis of the corpus callosum Multiple lipomas Adrenal insufficiency Diabetes insipidus Radial deviation of finger Anophthalmia Preaxial polydactyly Scrotal hypoplasia Median cleft lip Lymphedema Long eyelashes Abnormality of the face Heterotopia Abnormality of the genital system Fine hair Oligohydramnios Postaxial hand polydactyly Occipital encephalocele Lipoma Growth hormone deficiency Median cleft palate Midline facial cleft Frontal cutaneous lipoma Morning glory anomaly Scleral staphyloma Widely-spaced maxillary central incisors Hypoplastic frontal sinuses Absent tibia Parietal foramina Meningocele Agenesis of cerebellar vermis Broad philtrum Alopecia totalis Bifid nasal tip Conical tooth Preaxial foot polydactyly Short columella Coronal craniosynostosis Dandy-Walker malformation Broad nasal tip Aplasia/Hypoplasia of the skin Pulmonary artery atresia Chylothorax Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Congenital hepatic fibrosis Esophageal varix Abnormality of the upper limb Hypoplastic fingernail Absent hand Abnormality of the lower limb Arteriovenous malformation Double outlet right ventricle Pulmonary artery stenosis Central hypotonia Oligodactyly Aplasia cutis congenita Cutaneous finger syndactyly Aplastic/hypoplastic toenail Absent fingernail Postural instability Hypogonadism Postaxial polydactyly Wide nose Oral cleft Hypotrichosis Craniosynostosis Telecanthus Micropenis Polydactyly Clinodactyly Venous malformation Pruritus Low-set ears Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Acrania Imperforate hymen Periventricular cysts Cutis marmorata telangiectatica congenita Abnormality of the cerebral white matter Long face Skin rash Renal malrotation Blepharophimosis Wide mouth Pes planus Constipation Renal insufficiency Abnormality of metabolism/homeostasis Short distal phalanx of the thumb Delayed puberty Radial club hand Abnormality of the radius Optic disc hypoplasia Bladder diverticulum Optic nerve coloboma Short hallux Aplasia/Hypoplasia of the radius Microtia Abnormality of the foot Vertebral fusion Abnormality of vision Ulnar deviation of finger Anteriorly placed anus Bowel incontinence Ectopic kidney Bifid scrotum Overfolded helix Arnold-Chiari malformation Facial asymmetry Cranial nerve paralysis Spina bifida occulta Spina bifida Abnormal vertebral morphology Subcutaneous nodule Broad thumb Hypoplasia of penis Short humerus Vertebral segmentation defect Multiple renal cysts Schizophrenia Recurrent pneumonia Camptodactyly of finger Low-set, posteriorly rotated ears Posteriorly rotated ears Constrictive median neuropathy Relative macrocephaly Hallucinations Sparse eyelashes Specific learning disability Hip dysplasia Arthrogryposis multiplex congenita Hip dislocation Autistic behavior Gastroesophageal reflux Glaucoma Finger clinodactyly Sparse eyebrow Hypoplasia of the ulna Microcornea Renal hypoplasia/aplasia Sandal gap Horseshoe kidney Short thumb Aganglionic megacolon Short palpebral fissure Visual impairment Absent eyebrow Aplasia/Hypoplasia of the frontal sinuses Hypoplasia of the frontal bone Prominent glabella Caudal appendage Upper eyelid coloboma Wide nasal base Eyelid coloboma External ear malformation Lower limb asymmetry Abnormality of the liver Mild short stature Sparse lateral eyebrow Ankylosis Sprengel anomaly Prominent metopic ridge High hypermetropia Spastic diplegia Failure to thrive in infancy Abnormality of the rib cage Nasal speech Poor suck Cachexia Narrow face Abnormality of the hair Situs inversus totalis Prominent nose Small face Heterotaxy High, narrow palate Anemia Irritability Aggressive behavior Depressivity Headache Vomiting Tremor Abnormal hair laboratory examination Thin eyebrow Decreased head circumference Narrow foot Round ear Phimosis Moderately short stature Macrodontia Anteverted ears Triangular face Bulbous nose Rectovaginal fistula Rectoperineal fistula Delayed speech and language development Feeding difficulties High palate Abnormal facial shape Micrognathia Aplasia/Hypoplasia of the 3rd toe Abnormality of the tragus Intellectual disability, severe Urethral valve Bifid uterus Partial duplication of thumb phalanx Toe clinodactyly Epibulbar dermoid Abnormal vagina morphology Abnormality of the uterus Skeletal muscle atrophy Blindness Arachnodactyly Thin upper lip vermilion Paraplegia Hypermetropia Spastic paraplegia Short philtrum Joint stiffness Protruding ear Abnormality of the nervous system Macrotia Malar flattening Mandibular prognathia Narrow mouth Diabetes mellitus Severe short stature Pes cavus Pectus excavatum Cerebral atrophy Anterior basal encephalocele



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