Cataract, and Gynecomastia

Diseases related with Cataract and Gynecomastia

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


Top matches:

Medium match HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME Is also known as bosma arhinia-microphthalmia syndrome|bosma-henkin-christiansen syndrome

Related symptoms:

  • Cleft palate
  • Cataract
  • Cryptorchidism
  • Blindness
  • Microphthalmia


SOURCES: ORPHANET MENDELIAN

More info about HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME

Medium match COWDEN SYNDROME 5; CWS5


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

Medium match COWDEN SYNDROME 6; CWS6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match WILSON-TURNER SYNDROME


Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

WILSON-TURNER SYNDROME Is also known as wts|mental retardation, x-linked, with gynecomastia and obesity|mrxs6|mental retardation, x-linked, syndromic 6|x-linked intellectual disability-gynecomastia-obesity syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WILSON-TURNER SYNDROME

Medium match LYMPHEDEMA-DISTICHIASIS SYNDROME


Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.

LYMPHEDEMA-DISTICHIASIS SYNDROME Is also known as lymphedema with distichiasis

Related symptoms:

  • Muscle weakness
  • Cleft palate
  • Pain
  • Cataract
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-DISTICHIASIS SYNDROME

Medium match BORJESON-FORSSMAN-LEHMANN SYNDROME


Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

BORJESON-FORSSMAN-LEHMANN SYNDROME Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type|bfls|intellectual disability-epilepsy-endocrine disorders syndrome|borjeson syndrome|mrxsbfl|mental retardation, epilepsy, and endocrine disorders|borj

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BORJESON-FORSSMAN-LEHMANN SYNDROME

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE


Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Gynecomastia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Hypothyroidism

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Hypogonadism

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Failure to thrive Hypoplasia of the maxilla Intellectual disability, mild Pectus excavatum Generalized hypotonia Myopia Narrow mouth Goiter Macrocephaly Truncal obesity Skin tags Deeply set eye Ovarian cyst Obesity Ptosis Patent ductus arteriosus Diabetes mellitus Decreased testicular size Delayed puberty Hypermetropia Delayed speech and language development Microcephaly Pain Cleft palate Nystagmus Ataxia Cognitive impairment Motor delay Dilatation Autism Behavioral abnormality Hydrocephalus Downslanted palpebral fissures Hypergonadotropic hypogonadism Transitional cell carcinoma of the bladder Sparse hair Intellectual disability, moderate Macrotia Abnormality of the skeletal system Skeletal muscle atrophy Peripheral neuropathy Visual impairment Feeding difficulties Fibroadenoma of the breast Strabismus Progressive macrocephaly Furrowed tongue Intention tremor High palate Breast carcinoma Palmoplantar hyperkeratosis Hyperthyroidism Thyroiditis Varicocele Meningioma Hydrocele testis Hashimoto thyroiditis Subcutaneous lipoma Thyroid adenoma Colonic diverticula Hamartomatous polyposis Angioid streaks of the fundus

Rare Symptoms - Less than 30% cases


Intellectual disability, severe Hypoplasia of penis Gait disturbance Plagiocephaly Melanocytic nevus Abnormality of the kidney Abnormality of the cardiovascular system Misalignment of teeth Gastroesophageal reflux Respiratory failure Tubulointerstitial nephritis Constipation Glomerulopathy Cellulitis Insulin-resistant diabetes mellitus Abnormality of the dentition Inguinal hernia Thickened skin Broad foot Aggressive behavior Thoracic scoliosis Agenesis of corpus callosum Megalencephaly Broad thumb Neoplasm Ketoacidosis Broad forehead Flexion contracture Conductive hearing impairment Downturned corners of mouth Short toe Poor coordination Hyperpigmentation of the skin Heterotopia Otitis media Thick lower lip vermilion External genital hypoplasia Chronic diarrhea Myopathy Telangiectasia Brachycephaly Blindness Bone cyst Thick eyebrow Sensorineural hearing impairment Short neck Muscle weakness Pes planus Hypertelorism Prominent supraorbital ridges Micropenis Abnormality of cardiovascular system morphology Visual loss Photophobia Microphthalmia Anxiety Pes cavus Hypogonadotrophic hypogonadism Recurrent urinary tract infections Webbed neck Growth hormone deficiency Clinodactyly Cleft upper lip Tapered finger Optic atrophy Specific learning disability Abnormal facial shape Muscular hypotonia Absent speech Abnormality of the liver Proteinuria Frontal bossing Sleep disturbance Acanthosis nigricans Ascites Abdominal distention Hirsutism Nephropathy Atherosclerosis Hepatic steatosis Retinal dystrophy Macular degeneration Hepatic failure Tachycardia Cirrhosis Nausea Stage 5 chronic kidney disease Lymphadenopathy Asthma Cyanosis Vesicoureteral reflux Nephrocalcinosis Generalized hirsutism Horizontal nystagmus Recurrent pneumonia Sinusitis Hepatic fibrosis Cavernous hemangioma Insulin resistance Abnormality of retinal pigmentation Anorexia Left ventricular hypertrophy Involuntary movements Recurrent otitis media Hypertriglyceridemia Urinary incontinence Pulmonary arterial hypertension Epidermal acanthosis Absence seizures Type II diabetes mellitus Cardiomegaly Optic disc pallor Hepatitis Accelerated skeletal maturation Pigmentary retinopathy Increased body weight Progressive visual loss Gastrointestinal hemorrhage Round face Decreased liver function Myalgia Retinal degeneration Renal insufficiency Respiratory distress Cardiomyopathy Vomiting Congestive heart failure Dystonia Splenomegaly Depressivity Fatigue Encephalopathy Hyporeflexia Alopecia Pneumonia Endometrial carcinoma Pancreatitis Follicular thyroid carcinoma Respiratory insufficiency Hepatomegaly Ovarian carcinoma Enlarged cerebellum Colorectal polyposis Pseudopapilledema Mucosal telangiectasiae Acrokeratosis Neoplasm of the thyroid gland Cutis marmorata telangiectatica congenita Trichilemmoma Hypertension Dysplastic gangliocytoma of the cerebellum Conjunctival hamartoma Ductal carcinoma in situ Merkel cell skin cancer Multiple trichilemmomata Lobular carcinoma in situ Growth delay Intestinal polyp Abnormality of the penis Enlarged polycystic ovaries Dilated cardiomyopathy Autistic behavior Scarring Retinopathy Nyctalopia Cough Fibroma Generalized tonic-clonic seizures Respiratory tract infection Hypotrichosis Ophthalmoplegia Pulmonic stenosis Papilloma Carious teeth Infertility Dry skin Pallor Postnatal growth retardation Adenoma sebaceum Polydactyly Decreased proportion of CD4-positive T cells Recurrent respiratory infections Rod-cone dystrophy Neoplasm of the central nervous system Myoclonus Hyperhidrosis Abdominal pain Hyperkeratosis Irritability Weight loss Dyspnea Kyphoscoliosis Hepatosplenomegaly Generalized hyperkeratosis Jaundice Elevated hepatic transaminase Hyperlipidemia Elevated serum creatinine Hypercholesterolemia Chronic infection Hematemesis Melena First degree atrioventricular block Abnormality of the optic disc Decreased glomerular filtration rate Abnormal spermatogenesis Abnormality of the urethra Increased total bilirubin Lumbar scoliosis Abnormality of dental color Epigastric pain Abnormal chorioretinal morphology Urethral stricture Impaired temperature sensation Frontal balding Vertical nystagmus Abnormal muscle tone Pyelonephritis Testicular atrophy Tubulointerstitial fibrosis Elevated C-reactive protein level Arteriosclerosis Urinary retention Poor fine motor coordination Chills Bull's eye maculopathy Acute pancreatitis Achromatopsia Urethral stenosis Hepatic encephalopathy Abnormality of female external genitalia Multinodular goiter Female hypogonadism Albuminuria Abnormal renal physiology Widely-spaced incisors Granular macular appearance Thickened ears Dilatation of the bladder Unilateral breast hypoplasia Glue ear Recurrent cystitis Abnormal retinal artery morphology Hyperostosis frontalis interna Precocious puberty in females EEG with occipital slowing Abnormality of prothrombin Abnormality of renal calyx morphology Localized hirsutism Vitreous haze Receptive language delay Chronic active hepatitis Renovascular hypertension Facial hirsutism Squared iliac bones Urethral obstruction Abnormality of the pituitary gland Hypoplastic male external genitalia Hepatic necrosis Chronic hepatic failure ST segment depression Abnormal adipose tissue morphology Multifocal atrial tachycardia Childhood-onset truncal obesity High-frequency sensorineural hearing impairment Increased circulating androgen level Exudative retinopathy Nonproductive cough Abnormal left ventricle morphology Disinhibition Tachypnea Hydroureter Hyperglycemia Diabetes insipidus Glucose intolerance Polyuria Emphysema Pulmonary fibrosis Urinary urgency Acne Abnormal retinal morphology Pericardial effusion Chorioretinal atrophy Polyphagia Short finger Agenesis of permanent teeth Hyperostosis Impaired vibratory sensation Glycosuria Hyperinsulinemia Cone/cone-rod dystrophy Polycystic ovaries Abnormality of the hand Cholelithiasis Elevated alkaline phosphatase Precocious puberty Lipodystrophy Constriction of peripheral visual field Portal hypertension Polydipsia Nephritis Chronic otitis media Obsessive-compulsive behavior Aplasia/Hypoplasia of the cerebellum Progressive sensorineural hearing impairment Bronchitis Retinal pigment epithelial atrophy Chronic obstructive pulmonary disease Tubular atrophy Myocarditis Oligospermia Male hypogonadism Myocardial fibrosis Chronic fatigue Esophageal varix Acute hepatic failure Restrictive cardiomyopathy High-frequency hearing impairment Decreased HDL cholesterol concentration Menstrual irregularities Abnormal renal morphology Endocardial fibroelastosis Recurrent bronchitis Cellular immunodeficiency Hyperuricemia Retinal atrophy Increased number of teeth Subcapsular cataract Pericarditis Autoimmune thrombocytopenia Severe sensorineural hearing impairment Hypoventilation Peripheral visual field loss Right ventricular hypertrophy Alopecia of scalp Hyperventilation Oligomenorrhea Posterior subcapsular cataract Gingivitis Pendular nystagmus Attenuation of retinal blood vessels Long penis Partial agenesis of the corpus callosum Intestinal polyposis Areflexia Short distal phalanx of finger Distal amyotrophy Genu valgum Narrow chest Synophrys Congenital cataract Prominent nasal bridge Abnormal pyramidal sign Protruding ear Developmental regression Osteopenia Gait ataxia Osteoporosis Babinski sign Midface retrusion Nevus Malar flattening Hypertonia Hypoplasia of the corpus callosum Anteverted nares Anemia Scheuermann-like vertebral changes Hypoplasia of the prostate Widely spaced toes Cervical spinal canal stenosis Shortening of all middle phalanges of the fingers Moderately short stature Diabetic ketoacidosis Long ear Camptodactyly of toe Neurodegeneration Hip dysplasia Large earlobe Ankle clonus Recurrent ear infections Generalized osteoporosis Tics Dystrophic fingernails Broad face Progressive gait ataxia Thoracic kyphosis Irregular vertebral endplates Restlessness Striae distensae Hip contracture Congenital hypothyroidism Sparse body hair Basal ganglia calcification Mixed hearing impairment Cerebral calcification Anonychia Metatarsus adductus Bilateral cryptorchidism Self-injurious behavior Schizophrenia Abnormal palate morphology Osteolysis Spastic paraparesis Knee flexion contracture Paraparesis Clonus Abnormal form of the vertebral bodies Sparse scalp hair Bradykinesia Shortening of all distal phalanges of the fingers Short 5th finger Narrow iliac wings Microtia Bruising susceptibility Paresthesia Arrhythmia Edema Short ear Uplifted earlobe Malar prominence Decreased muscle mass Emotional lability Broad nasal tip Short foot Small hand Poor speech Neurological speech impairment Thin upper lip vermilion Conjunctivitis Retrognathia Hypoplasia of the olfactory bulb Abnormality of the midface Absent nares Single naris Failure of eruption of permanent teeth Abdominal wall muscle weakness Hyposmia Submucous cleft hard palate Anophthalmia Anosmia Amblyopia Bifid uvula Iris coloboma Lymphedema Recurrent skin infections Broad neck Abnormality of the pinna Hypopituitarism Thickened calvaria Abnormality of the hip bone Abnormality of neuronal migration Hammertoe Scrotal hypoplasia Narrow palpebral fissure Hypertrichosis Narrow forehead Amenorrhea Full cheeks Oral cleft Joint hyperflexibility Blepharophimosis Feeding difficulties in infancy Ectropion EEG abnormality Coarse facial features Lipedema Spinalarachnoid cyst Abnormality of the pulmonary vasculature Predominantly lower limb lymphedema Fibrosarcoma Knee pain Renal duplication Distichiasis Venous insufficiency Varicose veins Corneal erosion Overweight Ectopic calcification Abnormal glucose tolerance Astrocytoma Immunodeficiency Decreased antibody level in blood Lymphoma Macroglossia Abnormal cerebellum morphology Palmoplantar keratoderma Polymicrogyria Joint hypermobility Nausea and vomiting Papule Leukemia Carcinoma Proximal muscle weakness Recurrent infections Headache Diarrhea Subcutaneous nodule Atrial septal defect Tremor Brachydactyly Low-set ears Facial wrinkling Auricular pit Postnatal macrocephaly Microtia, first degree Prominent fingertip pads Frontal upsweep of hair Abnormality of the nasopharynx Sagittal craniosynostosis Gastrointestinal dysmotility Delayed closure of the anterior fontanelle Overgrowth Exotropia Anal stenosis Multiple lipomas Abnormality of the uterus Arteriovenous malformation Prolactin excess Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Renal cell carcinoma Hodgkin lymphoma Ovarian neoplasm Hamartoma Acute myeloid leukemia Multiple cafe-au-lait spots Cystic hygroma Abnormality of the thyroid gland Cafe-au-lait spot Macule Cutis marmorata Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Melanoma Hypopigmented skin patches Increased intracranial pressure Hemangioma Drooling Cranial nerve paralysis Neoplasm of the skin Lymphopenia Facial hypotonia Anteriorly placed anus Posterior polar cataract Hypospadias Wide mouth Camptodactyly Cleft lip Joint laxity Telecanthus Neonatal hypotonia Rigidity Umbilical hernia Cerebral cortical atrophy Hyperactivity Prominent forehead Posteriorly rotated ears Cerebellar hypoplasia Abnormal heart morphology Syndactyly Attention deficit hyperactivity disorder Long philtrum Ventricular septal defect Wide nasal bridge Epicanthus Spasticity Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Absent axillary hair Craniosynostosis Severe global developmental delay Abnormality of the sternum Wide anterior fontanel Broad hallux High pitched voice Multiple joint contractures Bowing of the legs Radial deviation of finger Impulsivity Chorioretinal coloboma Congenital contracture Pyloric stenosis Relative macrocephaly Optic nerve hypoplasia Sacral dimple Narrow palate Joint contracture of the hand Dental crowding Dolichocephaly Aganglionic megacolon Pachygyria Open mouth Choanal atresia Split hand Fine hair Lumbar hyperlordosis Prominent nose Intestinal malrotation Triangular face Single transverse palmar crease Thin vermilion border Unsteady gait Anal atresia Abnormality of the femoral head



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Coarse facial features, related diseases and genetic alterations Wide nasal bridge and Thick vermilion border, related diseases and genetic alterations Macrocephaly and Insulin resistance, related diseases and genetic alterations Pain and Intellectual disability, mild, related diseases and genetic alterations Immunodeficiency and Craniosynostosis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more