Microphthalmia, and Hypospadias

Diseases related with Microphthalmia and Hypospadias

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


Top matches:

Medium match SECKEL SYNDROME 2; SCKL2


Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (OMIM ).

SECKEL SYNDROME 2; SCKL2 Is also known as microcephalic primordial dwarfism 2|seckel-type dwarfism 2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 2; SCKL2

Medium 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

Medium 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

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Other less relevant matches:

Medium match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Medium 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

Medium match NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH


Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

Medium match FRASER SYNDROME


Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

Medium match HARTSFIELD SYNDROME


Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

Medium match HYDROLETHALUS SYNDROME 1; HLS1


Related symptoms:

  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Macrocephaly


SOURCES: MESH OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 1; HLS1

Medium match VACTERL WITH HYDROCEPHALUS


VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

VACTERL WITH HYDROCEPHALUS Is also known as vacterl-h|sujansky-leonard syndrome

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VACTERL WITH HYDROCEPHALUS

Top 5 symptoms//phenotypes associated to Microphthalmia and Hypospadias

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Encephalocele Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Cleft palate Global developmental delay Low-set, posteriorly rotated ears Hypertelorism Anophthalmia Microcornea Epicanthus Intrauterine growth retardation Short stature Cataract Coloboma Visual impairment Posteriorly rotated ears Growth delay Cleft lip Wide nasal bridge Abnormal vagina morphology Oral cleft Scrotal hypoplasia Pulmonary hypoplasia Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Respiratory insufficiency Agenesis of corpus callosum Arrhinencephaly High palate Holoprosencephaly Generalized hypotonia Hearing impairment Dental malocclusion Corneal opacity Polyhydramnios Omphalocele Hypoplasia of the corpus callosum Midface retrusion Renal hypoplasia Motor delay Abnormality of the pinna Blepharophimosis Micropenis Hypogonadism Wide intermamillary distance Inguinal hernia Absent septum pellucidum Broad neck Hydrocephalus Ambiguous genitalia Ptosis Macrocephaly Tracheal stenosis Microdontia Abnormal lung lobation Depressed nasal bridge Abnormal heart morphology Pes planus Abnormality of cardiovascular system morphology Syndactyly Anal atresia Ventricular septal defect Cleft upper lip Nystagmus Strabismus Vertebral segmentation defect Dental crowding Myelomeningocele Poor head control External ear malformation Multicystic kidney dysplasia Abnormality of digit Hypoplasia of the brainstem Diabetes insipidus Atresia of the external auditory canal Anal stenosis Aplasia/Hypoplasia of the corpus callosum Non-midline cleft lip Female pseudohermaphroditism Ectopic anus Calvarial skull defect Neonatal hypotonia Urethral atresia Cryptophthalmos Cleft ala nasi Abnormality of the middle ear Wide pubic symphysis Lacrimal duct aplasia Midline nasal groove Malformed lacrimal duct Laryngeal stenosis Subglottic stenosis Vaginal atresia Telecanthus Cutaneous syndactyly Protruding ear Craniosynostosis Severe global developmental delay Wide nose Ectodermal dysplasia Hypotelorism Intellectual disability, profound Split hand Bicornuate uterus Abnormal hair pattern Bifid tongue Ectrodactyly Heart murmur Aplasia/Hypoplasia of the radius Renal hypoplasia/aplasia Cleft in skull base Proximal tibial hypoplasia Anemia Respiratory failure Retrognathia Abnormality of the kidney Hip dislocation Renal agenesis Abnormal form of the vertebral bodies Abnormal vertebral morphology Spina bifida Hemivertebrae Abnormality of the outer ear Hypoplasia of the radius Agenesis of the diaphragm Tracheoesophageal fistula Absent thumb Abnormality of the vertebral column Occipital encephalocele Esophageal atresia Single umbilical artery Abnormality of the optic nerve Aqueductal stenosis Anotia Femoral hernia Radial club hand Absence of the sacrum Abnormality of the fallopian tube Adrenal gland dysgenesis Bifid uterus Megalocornea Postaxial hand polydactyly Gonadotropin deficiency Central diabetes insipidus Long hallux Semilobar holoprosencephaly Hypernatremia Duplication of thumb phalanx Lobar holoprosencephaly Talipes equinovarus Polydactyly Hydronephrosis Postaxial polydactyly Premature birth Dandy-Walker malformation Heterotopia Duplication of phalanx of hallux Preaxial polydactyly Preaxial hand polydactyly Anencephaly Median cleft lip Upper limb undergrowth Bilateral cleft lip Bilateral cleft lip and palate Abnormal cortical gyration Preaxial foot polydactyly Complete atrioventricular canal defect Bifid nose Accessory spleen Severe hydrocephalus Laryngeal hypoplasia Hypoplasia of the frontal bone Autism Hypoplasia of penis Hemihypertrophy Hypertrophic cardiomyopathy Leukemia Nephropathy Everted lower lip vermilion Abnormality of the genital system Abnormality of the genitourinary system Nephroblastoma Aniridia Acute lymphoblastic leukemia Hearing abnormality Renal neoplasm Abnormality of the uterus Obesity Gonadoblastoma Peters anomaly Aplasia/Hypoplasia of the iris Streak ovary Displacement of the external urethral meatus Dysfunction of lateral corticospinal tracts Seizures Small for gestational age Cerebellar hypoplasia Clinodactyly of the 5th finger Delayed speech and language development Short neck Glaucoma Renal insufficiency Upslanted palpebral fissure Retinal detachment High pitched voice Microglossia Mild global developmental delay Few cafe-au-lait spots Abnormal facial shape Cafe-au-lait spot Flexion contracture Narrow forehead Pes cavus Prominent forehead Skeletal dysplasia Intellectual disability, moderate Long eyelashes Cardiomyopathy Rhizomelia Knee flexion contracture Deep philtrum Precocious puberty Chorioretinal coloboma Prominent nose Sclerocornea Ectopia pupillae Periorbital fullness Monocular strabismus Scoliosis Neoplasm Pectus excavatum Narrow mouth Underdeveloped nasal alae Behavioral abnormality Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Frontal encephalocele Aplasia of the nose Absent paranasal sinuses Feeding difficulties Dysarthria Optic atrophy Frontal bossing Ventriculomegaly Anteverted nares Ectopic kidney Diastema Gastroesophageal reflux Postnatal growth retardation Autistic behavior Vesicoureteral reflux Cerebellar vermis hypoplasia Cerebral visual impairment Broad eyebrow Blindness Umbilical hernia Conductive hearing impairment Finger syndactyly Toe syndactyly Lacrimal duct stenosis Hypoplasia of teeth Osteopenia Delayed puberty Microtia Carious teeth Flat face Short palm Tapered finger Short palpebral fissure Overfolded helix Ureterocele Edema Hernia Muscular dystrophy Synophrys Iris coloboma Lacrimation abnormality Hypoplasia of the maxilla Broad nasal tip Primary amenorrhea Choanal atresia Hypogonadotrophic hypogonadism Anosmia Reduced number of teeth Limb-girdle muscular dystrophy Preauricular pit Agenesis of permanent teeth Hypoplastic labia majora Hyposmia Microtia, third degree



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