Visual impairment, and Ambiguous genitalia

Diseases related with Visual impairment and Ambiguous genitalia

In the following list you will find some of the most common rare diseases related to Visual impairment and Ambiguous genitalia that can help you solving undiagnosed cases.


Top 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 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

Low match ABLEPHARON MACROSTOMIA SYNDROME


Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ABLEPHARON MACROSTOMIA SYNDROME

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Other less relevant matches:

Low match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Low match FILIPPI SYNDROME


Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

Low match FRASER SYNDROME 1; FRASRS1


Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser SyndromeFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (OMIM ) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (OMIM ) on chromosome 12q14.See Bowen syndrome (OMIM ) for a comparable but probably distinct syndrome of multiple congenital malformations.

FRASER SYNDROME 1; FRASRS1 Is also known as cryptophthalmos with other malformations|fraser syndrome|cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 1; FRASRS1

Low match 45,X/46,XY MIXED GONADAL DYSGENESIS


45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.

45,X/46,XY MIXED GONADAL DYSGENESIS Is also known as 45,x0/46,xy mgd|45,x0/46,xy mixed gonadal dysgenesis|45,x/46,xy mgd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about 45,X/46,XY MIXED GONADAL DYSGENESIS

Low match MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME


MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS 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 SUDDEN INFANT DEATH-DYSGENESIS OF THE TESTES SYNDROME


Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.

SUDDEN INFANT DEATH-DYSGENESIS OF THE TESTES SYNDROME Is also known as siddt

Related symptoms:

  • Growth delay
  • Cryptorchidism
  • Abnormality of metabolism/homeostasis
  • Arrhythmia
  • Hyporeflexia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SUDDEN INFANT DEATH-DYSGENESIS OF THE TESTES SYNDROME

Top 5 symptoms//phenotypes associated to Visual impairment and Ambiguous genitalia

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

Patients with Visual impairment and Ambiguous genitalia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Corneal opacity Hypospadias Microphthalmia Hypertelorism Hearing impairment Growth delay Global developmental delay Underdeveloped nasal alae Finger syndactyly Syndactyly Abnormality of cardiovascular system morphology Blindness Wide nose Wide nasal bridge Depressed nasal bridge Hypoplasia of penis Seizures Delayed skeletal maturation High palate Muscular hypotonia Epicanthus Anophthalmia Atresia of the external auditory canal Clinodactyly of the 5th finger Wide intermamillary distance Dental malocclusion Cryptophthalmos Anal atresia Toe syndactyly Low-set, posteriorly rotated ears Glaucoma Abnormal heart morphology Cutaneous syndactyly Dysphasia Abnormality of skin pigmentation Cataract Gonadoblastoma Micropenis Cleft palate Atrial septal defect Abnormal facial shape Low-set ears Ventricular septal defect

Rare Symptoms - Less than 30% cases


Chordee Absent eyelashes Sparse hair Abnormality of the eye Arrhythmia Echolalia Apnea Abnormality of metabolism/homeostasis Epispadias Absent eyebrow Thin vermilion border Ovotestis Sacral dimple Microdontia Sleep apnea Hydrocephalus Aphasia Short chin Severe short stature Hypertrichosis Cutaneous finger syndactyly Optic atrophy Blepharophimosis Depressed nasal ridge Clinodactyly Polydactyly High forehead Abnormality of the skeletal system Frontal bossing Downslanted palpebral fissures Intrauterine growth retardation Failure to thrive Generalized hypotonia Male pseudohermaphroditism Small for gestational age Cafe-au-lait spot Bulbous nose Nystagmus Mutism Specific learning disability Feeding difficulties in infancy Abnormality of the kidney Scoliosis Gastroesophageal reflux Agenesis of corpus callosum Abnormality of the genital system Midface retrusion Finger clinodactyly Abnormality of the pinna Brachydactyly Sensorineural hearing impairment Hypothyroidism Clitoral hypertrophy Intellectual disability, mild Ambiguous genitalia, male Renal hypoplasia Bicornuate uterus Abnormal hair pattern Congenital glaucoma Calvarial skull defect Myelomeningocele Abnormal lung lobation Anal stenosis Abnormality of the anus Scrotal hypoplasia Hernia Dental crowding Encephalocele Omphalocele Cardiomyopathy Subglottic stenosis Pulmonary hypoplasia Cleft upper lip Obesity Conductive hearing impairment Umbilical hernia Hypertrophic cardiomyopathy Everted lower lip vermilion Streak ovary Abnormal vagina morphology Coarctation of aorta Tachycardia Acute lymphoblastic leukemia Nephroblastoma Vaginal atresia Multicystic kidney dysplasia Fine hair Short nose Flexion contracture Talipes equinovarus Malformed lacrimal duct Midline nasal groove Lacrimal duct aplasia Wide pubic symphysis Cleft ala nasi Urethral atresia Anteverted nares Myopia Laryngeal stenosis Neoplasm Ventricular fibrillation Dyscalculia Ambiguous genitalia, female Mitral regurgitation Amblyopia Autistic behavior Abnormality of retinal pigmentation Bicuspid aortic valve Azoospermia Tricuspid regurgitation Horseshoe kidney Hyperpigmentation of the skin Delayed puberty Low posterior hairline Abnormality of the nail Decreased serum testosterone level Abnormality of dental enamel Urogenital sinus anomaly Webbed neck Status epilepticus Hypopigmented skin patches Dermal atrophy Gynecomastia Nail dysplasia Recurrent otitis media Unilateral cryptorchidism Patent foramen ovale Intellectual disability, progressive Respiratory distress Congenital diaphragmatic hernia Bifid scrotum Visual loss Ovarian serous cystadenoma Hypogonadism Respiratory failure Dyspnea Muscle hypertrophy of the lower extremities Cervix cancer Hallux valgus Retrognathia Erythema Bilateral cryptorchidism Coloboma Abnormal internal genitalia Prolonged QT interval Abnormality of the scrotum Mitral valve prolapse Abnormal cardiac septum morphology Male infertility Penoscrotal hypospadias Skin rash Dilated cardiomyopathy Nail dystrophy Iris coloboma Cubitus valgus Retinal dystrophy Increased circulating gonadotropin level Short metatarsal Short 4th metacarpal Feeding difficulties Pigmentary retinopathy Hypopigmentation of the skin Testicular dysgenesis Preauricular pit Colon cancer Subvalvular aortic stenosis Intestinal polyposis Abnormality of the upper limb Duodenal atresia Abnormality of the skull Abnormality of immune system physiology Multiple cafe-au-lait spots Atrioventricular canal defect Aplasia/Hypoplasia of the cerebellum Dysplastic testes Myelodysplasia Abnormality of vision Aplasia/Hypoplasia of the corpus callosum Aortic regurgitation Holoprosencephaly Microretrognathia Osteolysis Rhizomelia Short palpebral fissure Rhabdomyosarcoma Stomach cancer Dandy-Walker malformation Bradycardia Abnormal pattern of respiration Tongue fasciculations Hypothermia Cardiorespiratory arrest Stridor Abnormality of the voice Abnormal autonomic nervous system physiology Cardiac arrest Ophthalmoplegia Abnormal aortic morphology Bronchospasm Laryngospasm Myoclonus Partial development of the penile shaft Hyporeflexia Vaginal neoplasm Premature chromatid separation Epidermoid cyst Increased nuchal translucency Sloping forehead Growth hormone deficiency Albinism Ocular albinism Abnormal nasolacrimal system morphology Abnormality of earlobe Periventricular leukomalacia Colpocephaly Abnormality of the testis Supraventricular tachycardia Retinal dysplasia Abnormal eyelid morphology Sclerocornea Overriding aorta Abnormal eyelash morphology Posterior embryotoxon Anencephaly Aplasia cutis congenita Anteriorly placed anus Absent septum pellucidum Aplasia/Hypoplasia of the skin Abnormality of the ear Hypoplasia of the uterus Tricuspid valve prolapse Mandibular aplasia Triangular face Anal fistula Ascites Long face Dolichocephaly Muscular dystrophy Craniosynostosis Deeply set eye Polyhydramnios Ventriculomegaly Cognitive impairment Asymmetric, linear skin defects Abnormality of the penis Cleft earlobe Abnormality of the rectum Vitritis Histiocytoid cardiomyopathy Orbital cyst Abnormal vitreous humor morphology Abnormality of the fallopian tube Arteria lusoria Functional motor deficit Chorioretinal dysplasia Small nail Pectus excavatum Excessive wrinkled skin Absent hair Microtia, third degree Ablepharon Abnormality of female external genitalia Short upper lip Abnormal nasal morphology Overbite Breast hypoplasia Long uvula Absent nipple Aplasia/Hypoplasia of the nipples High-frequency hearing impairment Labial hypoplasia Conical tooth Corneal erosion Abnormality of finger Hypoplasia of the zygomatic bone Ventral hernia Anemia Abnormality of the mouth Nausea and vomiting Tented upper lip vermilion Abnormality of the face Recurrent urinary tract infections Aganglionic megacolon Thick lower lip vermilion Macroglossia Flat face Abnormality of movement Spastic paraplegia Abnormality of the dentition Joint stiffness Telecanthus Hydronephrosis Autism Cerebral cortical atrophy Constipation Depressivity Behavioral abnormality Shallow orbits Hypoplastic nipples Self-injurious behavior Hemihypertrophy Vertebral segmentation defect Oral cleft Dysfunction of lateral corticospinal tracts Displacement of the external urethral meatus Aplasia/Hypoplasia of the iris Peters anomaly Abnormality of the uterus Renal neoplasm Tracheal stenosis Hearing abnormality Aniridia Abnormality of the genitourinary system Microcornea Nephropathy Leukemia Renal insufficiency Ptosis External ear malformation Ectopic anus Ectropion Hypoplasia of the maxilla Sparse eyebrow Redundant skin Abnormality of the outer ear Cutis laxa Thin skin Interphalangeal joint contracture of finger Short metacarpal Ectodermal dysplasia Dry skin Bifid tongue Microtia Camptodactyly of finger Wide mouth Camptodactyly Malar flattening Delayed speech and language development Female pseudohermaphroditism Abnormality of the middle ear Encephalitis Volvulus Abnormality of the umbilicus 2-4 toe syndactyly Cupped ear Abnormality of the urinary system Renal hypoplasia/aplasia Oligohydramnios Renal agenesis Postaxial polydactyly Cleft lip Frontal hirsutism Gonadal dysgenesis Enlarged epiphyses Clinodactyly of the 5th toe Aplastic/hypoplastic toenail Narrow naris Anteverted ears Congenital microcephaly Cutaneous syndactyly of toes Broad columella Aplasia/Hypoplasia of the thumb Facial cleft Low hanging columella Laryngeal web Aplasia/Hypoplasia of the sternum Extension of hair growth on temples to lateral eyebrow Laryngeal atresia Abnormality of the small intestine Severe T-cell immunodeficiency Hypoplastic superior helix Morphological abnormality of the middle ear Aplasia/Hypoplasia of the phalanges of the hand Difficulty in tongue movements Foot polydactyly Abnormality of the nares Abnormality of the thymus Upper eyelid coloboma Bilateral renal agenesis Bilateral microphthalmos Abnormal cortical gyration Choanal stenosis Postaxial foot polydactyly High anterior hairline Narrow nose Profound global developmental delay Prominent forehead Short philtrum Postnatal growth retardation Intellectual disability, moderate Muscular hypotonia of the trunk Thin upper lip vermilion Proptosis Brachycephaly Dystonia Broad forehead Hypertonia Cerebellar atrophy Intellectual disability, severe Spasticity Abnormality of the male genitalia Abnormality of fontanelles U-Shaped upper lip vermilion Abnormal hemoglobin Prominent nasal bridge Neurological speech impairment Limb hypertonia Long eyelashes Limb dystonia Abnormality of digit Narrow nasal bridge Supernumerary nipple Short middle phalanx of finger Widely spaced teeth Generalized hirsutism Bilateral single transverse palmar creases Postnatal microcephaly Synophrys Decreased body weight Limitation of joint mobility Hypodontia Single transverse palmar crease Hirsutism Thick eyebrow Smooth philtrum Paraplegia Staccato cry



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