Cataract, and Ambiguous genitalia

Diseases related with Cataract and Ambiguous genitalia

In the following list you will find some of the most common rare diseases related to Cataract 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 MECKEL SYNDROME

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.

SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE Is also known as short rib-polydactyly syndrome type 3

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Depressed nasal bridge
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE

Other less relevant matches:

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Low match LATHOSTEROLOSIS

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

NEU-LAXOVA SYNDROME Is also known as neu-laxova syndrome|3-phosphoglycerate dehydrogenase deficiency, neonatal form|nls

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEU-LAXOVA 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

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

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

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

Top 5 symptoms//phenotypes associated to Cataract and Ambiguous genitalia

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Microphthalmia Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of cardiovascular system morphology Dandy-Walker malformation Growth delay Sloping forehead Global developmental delay Epicanthus Ventriculomegaly Agenesis of corpus callosum Wide nose Seizures Cleft palate Intrauterine growth retardation Short stature Abnormal facial shape Hypertelorism Depressed nasal ridge Hydrocephalus Ventricular septal defect Postaxial hand polydactyly Syndactyly Hearing impairment Depressed nasal bridge Muscular dystrophy Long philtrum Short nose Cerebellar hypoplasia Wide nasal bridge Generalized hypotonia Clinodactyly Acute lymphoblastic leukemia Neoplasm Corneal opacity Microcornea Glaucoma Hypospadias Nephroblastoma

Rare Symptoms - Less than 30% cases

Aplasia/Hypoplasia of the iris Ptosis Premature chromatid separation Rhabdomyosarcoma Severe intrauterine growth retardation Hyperpigmentation of the skin Small for gestational age High forehead Micropenis Cardiomyopathy Patent foramen ovale Midface retrusion Muscular hypotonia Short neck Anteverted nares Low-set ears Hypertrophic cardiomyopathy Leukemia Hypoplasia of penis Failure to thrive Downslanted palpebral fissures High palate Nystagmus Absent septum pellucidum Abnormal eyelash morphology Abnormal eyelid morphology Abnormal cardiac septum morphology Retrognathia Polyhydramnios Hypogonadism Abnormal nasolacrimal system morphology Scoliosis Abnormality of the skeletal system Atrial septal defect Pulmonary hypoplasia Abnormality of metabolism/homeostasis Abnormal heart morphology Blepharophimosis Abnormality of skin pigmentation Cerebral calcification Specific learning disability Bulbous nose Toe syndactyly Cafe-au-lait spot Osteoporosis Talipes equinovarus Renal cyst Myelodysplasia Cleft upper lip Everted lower lip vermilion Low-set, posteriorly rotated ears Talipes Full cheeks Oligohydramnios Multicystic kidney dysplasia Aplasia/Hypoplasia of the corpus callosum Anophthalmia Preaxial hand polydactyly Male pseudohermaphroditism Postaxial foot polydactyly Sclerocornea Congenital hepatic fibrosis Frontal bossing Anencephaly Micromelia Anal atresia Arteria lusoria Respiratory distress Hernia Duodenal atresia Blindness Abnormality of the skull Abnormal lung lobation Sensorineural hearing impairment Feeding difficulties Arrhythmia Yellow subcutaneous tissue covered by thin, scaly skin Type III lissencephaly Abnormality of limbs Ablepharon Short umbilical cord Visual loss Severe short stature Anal fistula Microretrognathia Pigmentary retinopathy Osteolysis Hypopigmentation of the skin Retinal dystrophy Iris coloboma Tachycardia Nail dystrophy Aplasia/Hypoplasia involving the skeletal musculature Dilated cardiomyopathy Skin rash Coloboma Holoprosencephaly Erythema Dyspnea Respiratory failure Small placenta Bifid uterus Choroid plexus cyst External genital hypoplasia Abnormality of the mouth Sleep apnea Submucous cleft hard palate Osteomalacia Transposition of the great arteries Abnormality of vision Prominent occiput Broad foot Opisthotonus Abnormality of neuronal migration Bilateral cryptorchidism Rocker bottom foot Radial deviation of finger Large hands Ectropion Absent eyelashes Colon cancer Asymmetric, linear skin defects Calcaneovalgus deformity Macrogyria Cognitive impairment Abnormality of the cerebellar vermis Stomach cancer Abnormality of the philtrum Abnormality of immune system physiology Multiple cafe-au-lait spots Atrioventricular canal defect Hydranencephaly Abnormality of nervous system morphology Aortic regurgitation Generalized edema Lack of skin elasticity Abnormal cortical gyration Trismus Mitral valve prolapse Congenital diaphragmatic hernia Functional motor deficit Dolichocephaly Apnea Abnormality of the eye Chordee Periventricular leukomalacia Colpocephaly Craniosynostosis Abnormality of the testis Epispadias Supraventricular tachycardia Long face Epidermoid cyst Echolalia Retinal dysplasia Ocular albinism Posterior embryotoxon Abnormality of earlobe Abnormality of the upper limb Anteriorly placed anus Delayed skeletal maturation Ovotestis Abnormality of the penis Mandibular aplasia Overriding aorta Abnormality of the anus Tricuspid valve prolapse Clinodactyly of the 5th finger Deeply set eye Abnormality of the fallopian tube Subvalvular aortic stenosis Hypothyroidism Intestinal polyposis Abnormal aortic morphology Increased nuchal translucency Abnormal vitreous humor morphology Aplasia cutis congenita Ascites Status epilepticus Intellectual disability, progressive Mutism Hypopigmented skin patches Orbital cyst Histiocytoid cardiomyopathy Vitritis Sacral dimple Abnormality of dental enamel Rhizomelia Intellectual disability, mild Abnormality of the nail Abnormality of the rectum Abnormality of retinal pigmentation Amblyopia Mitral regurgitation Cleft earlobe Finger clinodactyly Chorioretinal dysplasia Aplasia/Hypoplasia of the skin Aphasia Aplasia/Hypoplasia of the cerebellum Abnormality of the ear Congenital glaucoma Hypoplasia of the uterus Triangular face Dysphasia Albinism Short palpebral fissure Preauricular pit Growth hormone deficiency Tricuspid regurgitation Ventricular fibrillation Coarctation of aorta Clitoral hypertrophy Dermal atrophy Rickets Increased mean platelet volume Pterygium Esophageal atresia Abnormal pelvis bone ossification Absent or minimally ossified vertebral bodies Bifid epiglottis Uterus didelphys Lethal skeletal dysplasia Bifid tongue Ectopic anus Facial cleft Malar flattening Short thorax Disproportionate short-limb short stature Short ribs Hydrops fetalis Omphalocele Abnormality of the metaphysis Renal hypoplasia Urethrovaginal fistula Immunodeficiency Short foot Intellectual disability, profound Acute leukemia Multiple renal cysts Combined immunodeficiency Bifid scrotum Limb-girdle muscular dystrophy Sarcoma Primary amenorrhea Amenorrhea Posteriorly rotated ears Generalized myoclonic seizures Generalized tonic-clonic seizures Severe global developmental delay Postnatal growth retardation Feeding difficulties in infancy Brachycephaly Upslanted palpebral fissure Abdominal distention Short palm Short sternum Renal neoplasm Displacement of the external urethral meatus Streak ovary Abnormal vagina morphology Peters anomaly Gonadoblastoma Abnormality of the uterus Hemihypertrophy Hearing abnormality Optic atrophy Aniridia Abnormality of the genitourinary system Abnormality of the genital system Nephropathy Obesity Renal insufficiency Visual impairment Dysfunction of lateral corticospinal tracts Encephalocele Narrow chest Aplasia/Hypoplasia of the tongue Hydronephrosis Respiratory insufficiency Macrocephaly Cystic liver disease Lobar holoprosencephaly True hermaphroditism Pancreatic fibrosis Urethral atresia Bowing of the long bones Abnormal chorioretinal morphology Accessory spleen Pancreatic cysts Ureteral duplication Furrowed tongue Asplenia Situs inversus totalis Mild microcephaly Triangular mouth Lissencephaly Skeletal muscle atrophy Cleft lip Osteopenia Macrotia Proptosis Patent ductus arteriosus Kyphosis Edema Flexion contracture Abnormality of the pinna Abnormality of the thoracic spine Lumbosacral meningocele Bilobate gallbladder Foam cells with lamellar inclusion bodies Severe generalized osteoporosis Schistocytosis Abnormality of cholesterol metabolism Camptodactyly Wide mouth Cerebellar cortical atrophy Renal agenesis Spina bifida Joint contracture of the hand Abnormality of the hair Pachygyria Thick lower lip vermilion Decreased fetal movement Limb undergrowth Abnormality of the skin Finger syndactyly Ectodermal dysplasia Bifid uvula Muscle cramps Thick vermilion border Polymicrogyria Ichthyosis Arthrogryposis multiplex congenita Abnormal platelet morphology Anisopoikilocytosis Cerebral hypoplasia Hepatosplenomegaly Downturned corners of mouth Postaxial polydactyly Hepatic failure Thin vermilion border Abnormality of the liver Conductive hearing impairment Elevated hepatic transaminase Polydactyly Cholestasis Myoclonus Thrombocytopenia Cerebral atrophy Hepatomegaly Hypertension Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Narrow forehead Gingival overgrowth Neural tube defect Meningocele Butterfly vertebrae Ambiguous genitalia, male Generalized osteoporosis Acanthocytosis Thick upper lip vermilion Intrahepatic cholestasis Myelomeningocele Prominent metopic ridge Horseshoe kidney Biparietal narrowing Pathologic fracture Bilateral talipes equinovarus Portal hypertension Elevated alkaline phosphatase Arnold-Chiari malformation Opacification of the corneal stroma Hyperbilirubinemia Vaginal neoplasm


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