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:

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLC


cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLC Is also known as methylmalonic aciduria with homocystinuria, type cblc|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblc|cobalamin c defect|cblc defect

Related symptoms:

  • Seizures
  • Microcephaly
  • Failure to thrive
  • Fatigue
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLC

Low match XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX


Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).

XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX Is also known as xp/cs complex

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

Low match JOUBERT SYNDROME 2; JBTS2


Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

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Other less relevant matches:

Low match 1P31P32 MICRODELETION SYNDROME


1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Low match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Low match MONOSOMY 9Q22.3


Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

Low match MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2


Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Low match MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6


Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

Low match ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS


Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS Is also known as haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

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
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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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Abnormality of the metaphysis, related diseases and genetic alterations Fever and Epidermal acanthosis, related diseases and genetic alterations Brachydactyly and Hyperglycemia, related diseases and genetic alterations

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