Cataract, and Blue sclerae

Diseases related with Cataract and Blue sclerae

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


Top matches:

Medium 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

Medium match MEVALONIC ACIDURIA


Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Medium match ADAMS-OLIVER SYNDROME 2; AOS2


Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

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Other less relevant matches:

Medium match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

Medium match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A


De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219100}. Genetic Heterogeneity of de Barsy SyndromeAlso see ARCL3B (OMIM ), caused by mutation in the PYCR1 gene (OMIM ) on chromosome 17q25.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Is also known as de barsy syndrome a|cutis laxa, corneal clouding, and mental retardation|progeroid syndrome of de barsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

Low match ROBERTS SYNDROME


Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

Low match ROBERTS SYNDROME; RBS


Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010).

ROBERTS SYNDROME; RBS Is also known as long bone deficiencies associated with cleft lip-palate

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBERTS SYNDROME; RBS

Low match NEONATAL MARFAN SYNDROME


Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.

NEONATAL MARFAN SYNDROME Is also known as neonatal mfs

Related symptoms:

  • Micrognathia
  • Muscular hypotonia
  • Low-set ears
  • Flexion contracture
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about NEONATAL MARFAN SYNDROME

Low match LOEYS-DIETZ SYNDROME


Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.

LOEYS-DIETZ SYNDROME Is also known as aortic aneurysm syndrome due to tgf-beta receptors anomalies|aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • High palate
  • Downslanted palpebral fissures


SOURCES: OMIM ORPHANET MENDELIAN

More info about LOEYS-DIETZ SYNDROME

Low match EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1


The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). Genetic Heterogeneity of Classic Ehlers-Danlos SyndromeSee EDSCL2 (OMIM ), caused by mutation in the COL5A2 gene (OMIM ) on chromosome 2q32. Classification of Ehlers-Danlos SyndromeThe current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al. (2017), which recognizes 13 EDS subtypes: classic, classic-like ({606408}, {618000}), cardiac-valvular (OMIM ), vascular (OMIM ), hypermobile (OMIM ), arthrochalasia ({130060}, {617821}), dermatosparaxis (OMIM ), kyphoscoliotic ({225400}, {614557}), spondylodysplastic ({130070}, {615349}), musculocontractural ({601776}, {615539}), myopathic (OMIM ), periodontal ({130080}, {617174}), and brittle cornea syndrome ({229200}, {614170}). This classification is a revision of the 'Villefranche classification' reported by Beighton et al. (1998), which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY.In an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002). Both were considered to be forms of classic EDS.

EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 Is also known as ehlers-danlos syndrome, gravis type, formerly|eds i, formerly|eds1, formerly|ehlers-danlos syndrome, type i, formerly|ehlers-danlos syndrome, severe classic type, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Motor delay
  • Hypertension
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1

Top 5 symptoms//phenotypes associated to Cataract and Blue sclerae

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cataract and Blue sclerae. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Posteriorly rotated ears Downslanted palpebral fissures Low-set ears Flexion contracture High palate Underdeveloped nasal alae Microphthalmia Dilatation Corneal opacity Growth delay Malar flattening Muscular hypotonia Generalized hypotonia Scoliosis Brachycephaly Umbilical hernia Thin skin Inguinal hernia Patent ductus arteriosus Severe intrauterine growth retardation Ectopia lentis Retinal detachment Talipes equinovarus Mitral valve prolapse Cryptorchidism Craniosynostosis Thrombocytopenia Spasticity Aortic root aneurysm Intrauterine growth retardation Joint laxity Postnatal growth retardation Large fontanelles Sparse hair Brachydactyly Joint hypermobility Retrognathia Wormian bones Opacification of the corneal stroma Congestive heart failure Dolichocephaly Strabismus

Rare Symptoms - Less than 30% cases


Finger syndactyly Wide anterior fontanel Oral cleft Motor delay Camptodactyly of finger Alopecia Oligohydramnios Arachnodactyly Protruding ear Deeply set eye Agenesis of corpus callosum Recurrent urinary tract infections Emphysema Syndactyly Hydrocephalus Hypoplasia of the corpus callosum Epicanthus Cleft palate Abnormality of skin pigmentation Subvalvular aortic stenosis Eosinophilia Polycystic kidney dysplasia Radial deviation of finger Glaucoma Clitoral hypertrophy Proptosis Polyhydramnios Paralysis Melanoma Clinodactyly Knee flexion contracture Elbow flexion contracture Cutis laxa Adducted thumb Hyperextensible skin Cleft upper lip Prominent nasal bridge Short femoral neck Pectus excavatum Wide nasal bridge Phocomelia Premature separation of centromeric heterochromatin Midface capillary hemangioma Tetraphocomelia Absent earlobe Aplasia of the ulna Wrist flexion contracture Long penis Hernia Short neck Low hanging columella Depressed nasal bridge Upper limb undergrowth Ventricular septal defect Atrial septal defect Absent radius Myopia Pectus carinatum Visual impairment Cerebral atrophy Aortic aneurysm Skin rash Aortic dissection Spondylolisthesis Delayed speech and language development Kyphoscoliosis Cerebral cortical atrophy Delayed skeletal maturation Vomiting Joint dislocation Optic atrophy Pain Failure to thrive Nystagmus Bowing of the long bones Convex nasal ridge Premature birth Small for gestational age Respiratory insufficiency Triangular face Abnormality of the nervous system Severe failure to thrive Pes planus Bruising susceptibility Proximal placement of thumb Absent thumb Soft skin Hiatus hernia Lipoatrophy Periodontitis Mitral regurgitation Tricuspid valve prolapse Iridodonesis Ascending tubular aorta aneurysm Varicose veins Radioulnar synostosis Generalized joint laxity Hypoplasia of the radius Bladder diverticulum Fragile skin Hip contracture Aplasia/Hypoplasia of the thumb Asthma Fair hair Long fingers Hypertension Abnormality of the foot Talipes calcaneovarus Capillary hemangioma External ear malformation Rectal prolapse Synostosis of carpal bones Inflammatory abnormality of the skin Abnormal cardiac ventricle morphology Underdeveloped supraorbital ridges Osteoarthritis Infantile muscular hypotonia Atrophic scars Hyperextensibility of the finger joints Hemangioma Poor wound healing Abnormal echocardiogram Bowel diverticulosis Megalocornea Long toe Hyperextensibility at elbow Subcutaneous spheroids Clinodactyly of the 5th finger Hyperextensibility of the knee Irregularly spaced teeth Abnormality of cardiovascular system morphology Intellectual disability, mild Premature birth following premature rupture of fetal membranes Hypoxemia Neoplasm Prominent superficial blood vessels Enlarged thorax Hypotrichosis Patellar aplasia Hemiparesis Sandal gap Eczematoid dermatitis Bilateral single transverse palmar creases Lop ear Aortic valve stenosis Short thumb Myocardial infarction Arterial rupture Cigarette-paper scars Chest pain Premature rupture of membranes Narrow maxilla Falls Molluscoid pseudotumors Myxomatous mitral valve degeneration Abnormality of the upper limb Crumpled ear Uterine rupture Heart murmur Craniofacial dysostosis Narrow naris Hydranencephaly Hand oligodactyly Biliary tract abnormality Bicornuate uterus Eyelid coloboma Bilateral renal agenesis Bilateral cleft lip and palate Bilateral cleft lip Shallow orbits Ankle contracture Abnormality of the sternum Fibular hypoplasia Accessory spleen Triangular mouth Subarachnoid hemorrhage Polar cataract Abnormal bleeding Bifid uvula Decreased testicular size High, narrow palate Tall stature Cardiac arrest Hyporeflexia Talipes equinovalgus Bicuspid aortic valve Feeding difficulties Enlarged labia minora Bilateral radial aplasia Intermittent thrombocytopenia Frontal encephalocele Striae distensae Dilatation of the cerebral artery High myopia Progressive flexion contractures Skeletal dysplasia Hypospadias Tricuspid regurgitation Pneumothorax Thoracic aortic aneurysm Mesomelic arm shortening Arterial tortuosity Abnormality of the kidney Facial hemangioma Complete duplication of thumb phalanx Dural ectasia Increased arm span Humeroradial synostosis Arterial dissection Cleft lip Coloboma Atypical scarring of skin Horseshoe kidney Oligodactyly Cystic hygroma Anonychia Bilateral talipes equinovarus Abnormality of the metacarpal bones Cranial nerve paralysis Cafe-au-lait spot Short philtrum Neonatal respiratory distress Abnormality of the genital system Encephalocele Renal agenesis Joint hyperflexibility Renal cyst Talipes Hypoargininemia Respiratory failure Corneal arcus Glutathione synthetase deficiency Hypertonia Ventriculomegaly Macrocephaly Normocytic hypoplastic anemia Fluctuating splenomegaly Fluctuating hepatomegaly Morbilliform rash Chronic leukemia Therapeutic abortion Hypoplastic anemia Abnormal heart morphology Normocytic anemia Extramedullary hematopoiesis Agenesis of cerebellar vermis Cholestatic liver disease Organic aciduria Nuclear cataract Petechiae Leukocytosis Clumsiness Depressivity Cerebellar hypoplasia Nevus Low anterior hairline Aplasia cutis congenita of scalp Periventricular leukomalacia Corpus callosum atrophy Aplasia cutis congenita Short finger Cutis marmorata Dermal atrophy Cerebral palsy Narrow palpebral fissure Lymphedema Muscular hypotonia of the trunk Small nail Wide intermamillary distance Gliosis Single transverse palmar crease Short foot Short distal phalanx of finger Bulbous nose Polymicrogyria Congenital cataract Aciduria Progressive cerebellar ataxia Retrocerebellar cyst Nonimmune hydrops fetalis Ataxia Absent ossification of calvaria Crumpled long bones Beaded ribs Abnormality of calvarial morphology Broad long bones Multiple prenatal fractures Lens luxation Pulmonary insufficiency Tibial bowing Anemia Metaphyseal widening Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Coarctation of aorta Recurrent fractures Platyspondyly Pneumonia Abnormality of the dentition Abnormal facial shape Hepatomegaly Metabolic acidosis Hepatosplenomegaly Retinal dystrophy Lactic acidosis Lymphadenopathy Malabsorption Leukemia Abnormality of the liver Low-set, posteriorly rotated ears Elevated hepatic transaminase Hypoglycemia Arthralgia Fever Acidosis Abdominal pain Elevated serum creatine phosphokinase Obesity Splenomegaly Diarrhea Cerebellar atrophy Myopathy Edema Retinal fold High-pitched cry Wide cranial sutures Osteoporosis Thin vermilion border Hip dislocation Blepharophimosis Scarring Difficulty walking High forehead Macrotia Mandibular prognathia Narrow mouth Prominent forehead Hypotelorism Severe short stature Visual loss Absent speech Midface retrusion Kyphosis Anteverted nares Abnormality of the skeletal system Frontal bossing Tremor Distal amyotrophy Decreased fetal movement Hyperreflexia Thin ribs Dermal translucency Calcaneovalgus deformity Narrow nasal ridge Excessive wrinkled skin Overlapping fingers Premature skin wrinkling Progeroid facial appearance Subcapsular cataract Prematurely aged appearance Reduced subcutaneous adipose tissue Fine hair Congenital glaucoma Neurodevelopmental delay Multiple joint contractures Mild short stature Athetosis Redundant skin Poor suck Hyperammonemia Congenital hip dislocation Skeletal muscle atrophy Hearing impairment Cutis marmorata telangiectatica congenita Abnormal blistering of the skin Hypopigmented skin patches Spina bifida occulta Osteolysis Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Abnormality of the hair Skin ulcer Pulmonary arterial hypertension Hypodontia Abnormality of dental morphology Delayed eruption of teeth Attention deficit hyperactivity disorder Erythema Hyperkeratosis Hyperhidrosis Gait disturbance Cognitive impairment Retinal nonattachment Adactyly Encephalitis Keratitis Retinal vascular proliferation Cerebral ischemia Broad nail Abnormal hand morphology Ridged fingernail Abnormal chorioretinal morphology Absent hand Retinal hemorrhage Asymmetric growth Supernumerary ribs Deviation of finger Verrucae Hemiplegia/hemiparesis Hypoplastic fingernail Dystrophic toenail Abnormal toenail morphology Hearing abnormality Uveitis Irregular hyperpigmentation Abnormality of immune system physiology Telangiectasia of the skin Supernumerary nipple Membranous ventricular septal aneurysm



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