Cataract, and Hypospadias

Diseases related with Cataract and Hypospadias

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


Top matches:

Low match SQUALENE SYNTHASE DEFICIENCY; SQSD


Squalene synthase deficiency is an autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids (Coman et al., 2018). Squalene synthase deficiency has been reported in 3 patients from 2 families.

SQUALENE SYNTHASE DEFICIENCY; SQSD Is also known as neurodevelopmental disorder with low cholesterol and abnormal urine organic acids

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about SQUALENE SYNTHASE DEFICIENCY; SQSD

Low match COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME


Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.

COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME Is also known as microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|mcops14

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME

Low match CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME


Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

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Other less relevant matches:

Low match WAGR SYNDROME


WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

Low match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME


Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

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 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 LAURENCE-MOON SYNDROME


Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Hypospadias

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Epicanthus Short stature Microphthalmia Scoliosis Nystagmus Hypertelorism Cleft palate Microcornea Hypoplasia of the corpus callosum Failure to thrive Micrognathia Visual impairment

Rare Symptoms - Less than 30% cases


Renal insufficiency Rhizomelia Anophthalmia Generalized hypotonia Displacement of the external urethral meatus Corneal opacity Scrotal hypoplasia Iris coloboma Glaucoma Ptosis Everted lower lip vermilion Obesity High palate Micropenis Coloboma Autism Spasticity Intellectual disability, moderate Low-set, posteriorly rotated ears Abnormal facial shape Syndactyly Macrocephaly Retrognathia Limb-girdle muscular dystrophy Reduced number of teeth Anosmia Hypogonadotrophic hypogonadism Finger syndactyly Encephalocele Choanal atresia Primary amenorrhea Dental malocclusion Preauricular pit Brachycephaly Agenesis of permanent teeth Broad nasal tip Hypoplasia of the maxilla Hypoplasia of penis Bilateral single transverse palmar creases Type II diabetes mellitus Hernia Congenital hepatic fibrosis Dysfunction of lateral corticospinal tracts Hearing impairment Low-set ears Edema Midface retrusion Inguinal hernia Hyposmia Hypogonadism Cleft lip Muscular dystrophy Synophrys Delayed puberty Hand polydactyly Hypoplastic labia majora Hypoplasia of teeth Lacrimation abnormality Schizophrenia Constrictive median neuropathy Relative macrocephaly Behavioral abnormality Intellectual disability, mild Hyperactivity Gastroesophageal reflux Anxiety Aplasia/Hypoplasia of the iris Autistic behavior Attention deficit hyperactivity disorder Hip dislocation Hallucinations Arthrogryposis multiplex congenita Tetralogy of Fallot Hip dysplasia Abnormality of metabolism/homeostasis Ataxia Specific learning disability Sensorineural hearing impairment Abnormality of cardiovascular system morphology Brachydactyly Diastema Lacrimal duct stenosis Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Frontal encephalocele Hypertonia Aplasia of the nose Absent paranasal sinuses Muscular hypotonia Frontal bossing Talipes equinovarus Hydrocephalus Atrial septal defect Streak ovary Cardiomyopathy Abnormal vagina morphology Ectopia pupillae Long eyelashes Knee flexion contracture Deep philtrum Precocious puberty Chorioretinal coloboma Sclerocornea Periorbital fullness Pes planus Monocular strabismus Downslanted palpebral fissures Ventriculomegaly Kyphosis Dilatation Hydronephrosis Retinal detachment Skeletal dysplasia Abnormal cardiac septum morphology Polymicrogyria Depressed nasal bridge Posteriorly rotated ears Macrotia Irritability Toe syndactyly Dry skin Cutaneous photosensitivity Prominent forehead Cerebral visual impairment Bicuspid aortic valve Optic nerve hypoplasia Bilateral cryptorchidism Profound global developmental delay Flexion contracture Pes cavus Sparse hair Short philtrum Peters anomaly Abnormality of the genitourinary system Neoplasm Hypertrophic cardiomyopathy Leukemia Nephropathy Ambiguous genitalia Abnormality of the genital system Nephroblastoma Obstructive sleep apnea Aniridia Acute lymphoblastic leukemia Hearing abnormality Renal neoplasm Hemihypertrophy Abnormality of the uterus Gonadoblastoma Broad femoral neck Scaphocephaly Congenital cataract Myopia Nevus Tented upper lip vermilion Sparse eyebrow Nevus flammeus Feeding difficulties Motor delay Intrauterine growth retardation 2-3 toe syndactyly Ventricular septal defect Gait ataxia Astigmatism Hypotelorism Coxa valga Accelerated skeletal maturation Metaphyseal widening Abnormality of the antitragus



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