Hydrocephalus, and Retinopathy

Diseases related with Hydrocephalus and Retinopathy

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

Top matches:

Other less relevant matches:

Top 5 symptoms//phenotypes associated to Hydrocephalus and Retinopathy

Symptoms // Phenotype	% cases
Intellectual disability	Very Common - Between 80% and 100% cases
Global developmental delay	Common - Between 50% and 80% cases
Macrocephaly	Common - Between 50% and 80% cases
Seizures	Common - Between 50% and 80% cases
Muscular hypotonia	Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Retinopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Failure to thrive Ventriculomegaly Microcephaly Hearing impairment Generalized hypotonia Microphthalmia Corneal opacity Kyphosis Intellectual disability, profound Feeding difficulties Visual impairment Abnormal facial shape Polydactyly Flexion contracture Coloboma Dolichocephaly Dandy-Walker malformation Intellectual disability, severe Cataract Absent septum pellucidum Pigmentary retinopathy Hydronephrosis Agenesis of corpus callosum Inguinal hernia Hypoplasia of the corpus callosum Metopic synostosis Umbilical hernia Frontal bossing Cryptorchidism Dysostosis multiplex Nystagmus Ataxia Myelopathy Tetraplegia

Rare Symptoms - Less than 30% cases

Abnormality of the skeletal system Narrow mouth Arachnoid cyst Cognitive impairment Hypertension Hip dysplasia Urinary incontinence Polymicrogyria Attention deficit hyperactivity disorder Spastic tetraparesis Hyperactivity Obstructive sleep apnea Retinal fold Downslanted palpebral fissures Muscle weakness Hernia Dilatation Short nose Hypertonia Sleep apnea Growth delay Delayed eruption of teeth Cervical cord compression Hemiplegia Aortic valve stenosis Hepatomegaly Cardiomyopathy Congestive heart failure Splenomegaly Short neck Coarse facial features Hepatosplenomegaly Cerebral cortical atrophy Pulmonary arterial hypertension Apnea Macroglossia Accelerated skeletal maturation Iris coloboma Spastic tetraplegia Tetraparesis Oral cleft Congenital cataract Abnormality of the cerebral white matter Dermatan sulfate excretion in urine Glaucoma Cerebellar hypoplasia Progressive neurologic deterioration Split hand Abnormality of retinal pigmentation Abnormal heart valve morphology Renal dysplasia Spasticity Retinal dystrophy Blindness Basal cell carcinoma Craniosynostosis Confusion Depressed nasal bridge Optic atrophy High palate Renal insufficiency Hypoplasia of the brainstem Hypoplastic male external genitalia Short stature Encephalocele Lethargy Anorexia Hypertelorism Delayed speech and language development Flared iliac wings Atrial septal defect Ventricular septal defect Prominent sternum Neoplasm Anterior wedging of L2 Hypoplastic acetabulae Gastritis Cervical instability Constrictive median neuropathy Behavioral abnormality Cervical myelopathy Anterior wedging of L1 Hip dislocation Cerebral atrophy Coarctation of aorta Mutism Hemangioma Sacral dimple Osteolysis Muscle stiffness Subcutaneous nodule Abnormality of the face Hemiparesis Cerebral calcification Alopecia Nevus Hypotrichosis Papule Neurological speech impairment Scarring Paralysis Broad ribs Skeletal dysplasia Rigidity Thoracic kyphosis Right ventricular failure Vitamin B12 deficiency Decreased methylcobalamin Joint stiffness Hypothyroidism Hyperhomocystinemia Decreased adenosylcobalamin Edema Decreased methionine synthase activity Respiratory distress Cystathioninuria Delirium Retinoschisis Hypomethioninemia Tracheobronchomalacia Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Decreased methylmalonyl-CoA mutase activity Intestinal pseudo-obstruction Diffuse hepatic steatosis Cystathioninemia Urogenital fistula Genu valgum Disproportionate short-trunk short stature Epiphyseal dysplasia Ovoid vertebral bodies Hypoplastic iliac wing Hemolytic-uremic syndrome Lipodystrophy Hypoplasia of the odontoid process Aseptic necrosis Spinal canal stenosis Metaphyseal irregularity Metaphyseal widening Recurrent upper respiratory tract infections Hirsutism Opacification of the corneal stroma Atrophy of the spinal cord Thickened skin Methylmalonic acidemia Chronic hemolytic anemia Decreased body weight Abnormality of macular pigmentation Lumbar hyperlordosis Waddling gait Homocystinuria Multiple lipomas Aphasia Psychosis Aciduria Memory impairment Weight loss Dementia Depressivity Abnormality of extrapyramidal motor function Thrombocytopenia Pancytopenia Respiratory insufficiency Tremor Reduced visual acuity Anemia Lipomas of the central neryous system Abnormal cartilage morphology Linear hyperpigmentation Osteochondrosis Odontoma Neurodevelopmental abnormality Broad-based gait Neoplasm of the skeletal system Gait ataxia Neutropenia Chorioretinitis Retinal degeneration Mental deterioration Proteinuria Arthritis Malabsorption Lower limb muscle weakness Smooth philtrum Difficulty walking Unsteady gait Paresthesia Macrotia Metabolic acidosis Abnormality of skin pigmentation Long face Joint hypermobility Hemolytic anemia Nephropathy Hematuria Hepatic steatosis High forehead Acidosis Pelvic kidney Recurrent urinary tract infections Dysphasia Methylmalonic aciduria Megaloblastic anemia Hemihypertrophy Echolalia Cor pulmonale Ectopia pupillae Eyelid coloboma Abnormal eyelid morphology Skin tags Sclerocornea Capillary hemangioma Thromboembolism Abnormality of the skull Abnormal eyelash morphology Nevus flammeus Lipoma Hypoplasia of the iris Aplasia cutis congenita Hamartoma Feeding difficulties in infancy Cortical dysplasia Xanthomatosis Astrocytoma Hemiatrophy Abnormal aortic morphology Papilledema Tricuspid valve prolapse Epibulbar dermoid Abnormal nasolacrimal system morphology Atherosclerosis Subcortical cerebral atrophy Slurred speech Abnormal anterior chamber morphology Alopecia areata Ectopia lentis Craniofacial hyperostosis Visceral angiomatosis Glioma Interrupted aortic arch Porencephalic cyst Apathy Bone cyst Disproportionate tall stature Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Subcutaneous lipoma Large for gestational age Scaphocephaly Prominent forehead Overgrowth Vesicoureteral reflux Thin vermilion border Facial asymmetry Broad forehead Thin upper lip vermilion Jaundice Upslanted palpebral fissure Anteverted nares Short chin Motor delay Noncommunicating hydrocephalus Enlarged fossa interpeduncularis Thickened superior cerebellar peduncle Neonatal breathing dysregulation Brainstem dysplasia Dysgenesis of the cerebellar vermis Episodic tachypnea Elongated superior cerebellar peduncle Renal hypoplasia Aplasia/Hypoplasia of the corpus callosum Abnormal saccadic eye movements Craniofacial asymmetry Elevated serum creatine phosphokinase Hyporeflexia Areflexia Myopathy Skeletal muscle atrophy Intrauterine growth retardation Myopia Cleft palate Partial absence of the septum pellucidum Intraventricular hemorrhage Abnormality of the urinary system Ureterocele Broad face Narrow nose Arnold-Chiari type I malformation Syringomyelia Cutis marmorata Obsessive-compulsive behavior Overfolded helix Sparse eyebrow Abnormality of ocular smooth pursuit Accessory oral frenulum Proptosis Dermal atrophy Neonatal hypotonia Numerous pigmented freckles Abnormality of amino acid metabolism Squamous cell carcinoma of the skin Arteriosclerosis Demyelinating peripheral neuropathy Poikiloderma Prematurely aged appearance Urticaria Cachexia Abnormality of the foot Melanoma Diplopia Cutaneous photosensitivity Dry skin Skin rash Dysarthria Megaloblastic bone marrow Pallor Fatigue Camptodactyly Postaxial polydactyly Rotary nystagmus External genital hypoplasia Abnormal corpus callosum morphology Abnormal renal physiology Agenesis of cerebellar vermis Central apnea Optic nerve coloboma Impaired smooth pursuit Congenital blindness Acute kidney injury Nephronophthisis Molar tooth sign on MRI Renal cyst Chorioretinal coloboma Patent foramen ovale Abnormal electroretinogram Oculomotor apraxia Hepatic fibrosis Apraxia Postaxial hand polydactyly Esotropia Abnormal cerebellum morphology Posteriorly rotated ears Cleft lip Mild short stature Tall stature Ovarian fibroma Calcification of falx cerebri Palmar pits Rhabdomyosarcoma Medulloblastoma Abnormality of the vertebral column Nephroblastoma Trigonocephaly Arnold-Chiari malformation Abnormality of the ribs Plantar pits Joint hyperflexibility Pectus excavatum Long philtrum Epicanthus Strabismus Abnormal aldolase level Thick cerebral cortex Aplasia/Hypoplasia involving the skeletal musculature Chorioretinal dysplasia Thickened ears Odontogenic keratocysts of the jaw Macrogyria Hypertrichosis Incoordination Corneal dystrophy Widely spaced teeth Aortic regurgitation Intellectual disability, progressive Exercise intolerance Elbow flexion contracture Hoarse voice Recurrent otitis media Thick lower lip vermilion Cardiac fibroma Asthma Postural instability Neurodegeneration Osteopenia Rod-cone dystrophy Severe short stature Pes cavus Diarrhea Ptosis Abnormal lactate dehydrogenase activity Severe hydrocephalus Protruding ear Pachygyria Abnormality of neuronal migration Anophthalmia Congenital muscular dystrophy Congenital contracture Atresia of the external auditory canal Optic nerve hypoplasia Lissencephaly Severe muscular hypotonia Heterotopia Cerebellar vermis hypoplasia Occipital encephalocele Hypoplasia of penis Specific learning disability Bifid uvula Microcornea Retinal detachment Cleft upper lip Anal atresia Muscular dystrophy Microtia Congenital glaucoma Submucous cleft hard palate Metatarsus valgus Type II lissencephaly Abnormality of the cerebellar vermis Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Meningoencephalocele Posterior fossa cyst Remnants of the hyaloid vascular system Excessive daytime sleepiness Agyria Cerebellar cyst Cerebellar dysplasia Retinal atrophy Muscle fiber splitting Peters anomaly Aqueductal stenosis Buphthalmos Abnormality of the optic nerve Abnormal cortical gyration Retinal dysplasia Bilateral cleft lip Megalocornea Thyroglossal cyst

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