Hydrocephalus, and Telangiectasia

Diseases related with Hydrocephalus and Telangiectasia

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

Top matches:

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.

STURGE-WEBER SYNDROME Is also known as sws|sturge-weber-dimitri syndrome|sturge-weber-krabbe angiomatosis|encephalofacial angiomatosis|sturge-weber-krabbe syndrome|encephalotrigeminal angiomatosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Strabismus
  • Hyperreflexia
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about STURGE-WEBER SYNDROME

Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.

VON HIPPEL-LINDAU DISEASE Is also known as familial cerebelloretinal angiomatosis|von hippel-lindau syndrome|lindau disease|vhl

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about VON HIPPEL-LINDAU DISEASE

Other less relevant matches:

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

MPPH2 is an overgrowth syndrome comprising megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP ) (summary by Gripp et al., 2009).For a discussion of genetic heterogeneity of MPPH, see {603387}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Macrocephaly
  • Ventriculomegaly
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2

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 H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Top 5 symptoms//phenotypes associated to Hydrocephalus and Telangiectasia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Arteriovenous malformation Telangiectasia of the skin Cutis marmorata Polymicrogyria Abnormality of cardiovascular system morphology Ventriculomegaly Neoplasm Failure to thrive Overgrowth Hearing impairment Generalized hypotonia Short stature Growth delay Hypertelorism Brachydactyly Abnormality of the kidney Ventricular septal defect Alopecia Syndactyly Arnold-Chiari malformation Patent ductus arteriosus Abnormal heart morphology Toe syndactyly Finger syndactyly Frontal bossing Atrial septal defect Hypertension Cataract Abnormal cardiac septum morphology Varicose veins Multicystic kidney dysplasia Dilatation Cutis marmorata telangiectatica congenita Intrauterine growth retardation Megalencephaly Aplasia/Hypoplasia of the skin Scoliosis Micrognathia Low-set ears Epicanthus Capillary hemangioma Microphthalmia Hernia Polydactyly Hypothyroidism Postaxial hand polydactyly Leukemia Abnormality of the skin Cleft upper lip Joint hypermobility Ptosis Strabismus Hand polydactyly Visceral angiomatosis Retinal detachment Subcutaneous nodule Gingival overgrowth Deeply set eye Arrhythmia Optic atrophy Glaucoma Muscular hypotonia Macule

Rare Symptoms - Less than 30% cases

Abnormality of the dentition Flexion contracture Umbilical hernia Pectus excavatum Inguinal hernia Narrow mouth Proptosis Abnormality of digit Abnormality of hair texture Cortical dysplasia Sleep apnea Redundant skin Multiple cafe-au-lait spots Congenital hip dislocation Abnormality of skin pigmentation Flat face Hemangioma Blue sclerae Skin nodule Thin skin Osteolysis Meningioma Clinodactyly Talipes equinovarus Nail dysplasia Split hand Ascites Supernumerary nipple Sparse hair Colonic diverticula Aplasia cutis congenita Hypotrichosis Oligodactyly Stridor Scleroderma Absent fingernail Hypoplasia of the corpus callosum Abnormality of the skeletal system Cryptorchidism Narrow nasal bridge Cleft palate Microcephaly Melanocytic nevus Pain Progressive macrocephaly Camptodactyly Hemimegalencephaly Capillary malformation Arterial stenosis Abnormality of the upper limb Abnormality of the lower limb Premature birth Abnormality of the foot Mitral valve prolapse Papilloma Ataxia Migraine Papule Dysphagia Blindness Abnormality of the cerebral vasculature Abnormality of the retinal vasculature Stroke Neurological speech impairment Intellectual disability, mild Nystagmus Sensorineural hearing impairment Renal cell carcinoma Gynecomastia Iris coloboma Hyperhidrosis Increased intracranial pressure Asymmetric growth Hyperreflexia Nevus flammeus Aplasia/Hypoplasia of the cerebellum Depressed nasal bridge High forehead Facial asymmetry Joint hyperflexibility Full cheeks Joint laxity Wide nasal bridge Nausea and vomiting Hypermelanotic macule Downslanted palpebral fissures Edema Foot polydactyly Elbow flexion contracture Epistaxis Aspiration Psoriasiform dermatitis Hypertriglyceridemia Cellular immunodeficiency Hypertrichosis Primary amenorrhea Bone cyst Hypergonadotropic hypogonadism Lipodystrophy Azoospermia Plagiocephaly Intestinal polyposis Bronchiectasis Hyperpigmentation of the skin Type I diabetes mellitus Polycythemia Hyperglycemia Furrowed tongue Histiocytosis Abnormality of the vasculature Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Papilledema Prolactin excess Aspiration pneumonia Abnormal eyebrow morphology Skin tags Hydrocele testis Enlarged kidney Leukocytosis Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Abnormality of the uterus Episodic fever Astrocytoma Long penis Lipoatrophy Microcytic anemia Ovarian cyst Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Epidermal acanthosis Trichilemmoma Cardiomegaly Mucosal telangiectasiae Diabetes mellitus Hypogonadism Thyroid adenoma Posteriorly rotated ears Varicocele Severe short stature Follicular thyroid carcinoma Endometrial carcinoma Pneumonia Delayed skeletal maturation Colorectal polyposis Splenomegaly Pseudopapilledema Anteverted nares Intestinal polyp Fever Hepatomegaly Anemia Acrokeratosis Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Transitional cell carcinoma of the bladder Neoplasm of the thyroid gland Fibroadenoma of the breast Enlarged cerebellum Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Hyperkeratosis Micropenis Bilateral sensorineural hearing impairment Generalized hyperkeratosis Amenorrhea Decreased testicular size Wide intermamillary distance Cavernous hemangioma Growth hormone deficiency Enlarged polycystic ovaries Recurrent fractures Polyneuropathy Hamartomatous polyposis Ichthyosis Lymphadenopathy Fibroma Delayed puberty Malabsorption Dyspnea Neoplasm of the central nervous system Decreased proportion of CD4-positive T cells Adenoma sebaceum Subcutaneous lipoma Pectus carinatum Retinopathy Apnea Abnormality of the penis Angioid streaks of the fundus Low-set, posteriorly rotated ears Ovarian carcinoma Conductive hearing impairment Hepatosplenomegaly Pes planus Lobular carcinoma in situ Omphalocele Reticulocytopenia Split foot Labial hypoplasia Abnormality of the larynx Verrucae Ulcerative colitis Lower limb asymmetry Hypoplastic pelvis Duodenal atresia Acute hepatic failure Diastasis recti Truncus arteriosus Myelomeningocele Stenosis of the external auditory canal Aplasia/Hypoplasia of the lungs Hiatus hernia Hypoplasia of the iris Hypoplasia of teeth Aniridia Short clavicles Ectrodactyly Facial cleft Hypoplastic nipples Anteriorly placed anus Vertebral fusion Colitis Mixed hearing impairment Short finger Open bite Mild short stature Anophthalmia Abnormality of dental morphology Cholangitis Anomalous pulmonary venous return Ectropion Caudal appendage Midclavicular hypoplasia Giant cell tumor of bone Apocrine hidrocystoma Cholesteatoma Linear hyperpigmentation Ectopia cordis Bifid ureter Abnormal adipose tissue morphology Abnormality of the pulmonary vasculature Nonproductive cough Osteopathia striata Cleft ala nasi Abnormality of the mediastinum Abnormal palmar dermatoglyphics Ridged fingernail Bifid nose Absence of the sacrum Patchy alopecia Upper limb asymmetry Reticular hyperpigmentation Foot oligodactyly Abnormality of the middle ear Rough bone trabeculation Absent toenail Clitoral hypoplasia Inspiratory stridor Total anomalous pulmonary venous return Abnormal cornea morphology Hand oligodactyly Ureteral duplication Chorioretinal coloboma Ectopia lentis Chronic rhinitis Retroperitoneal fibrosis Camptodactyly of finger Coloboma Scarring Erythema Abnormality of the pinna Cleft lip Hydronephrosis Gastroesophageal reflux Reduced visual acuity Weight loss Abdominal pain Agenesis of corpus callosum Obesity Seborrheic keratosis Upper eyelid edema Microtia Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Cough Corneal opacity Brittle hair Spina bifida Short metatarsal Dermal atrophy Reduced number of teeth Recurrent skin infections Oligodontia Renal hypoplasia/aplasia Spina bifida occulta Abnormality of dental enamel Horseshoe kidney Pointed chin Increased body weight Abnormality of the nail Short ribs Hoarse voice Short phalanx of finger Nail dystrophy Abnormality of epiphysis morphology Hypoplasia of dental enamel Scaphocephaly Renal hypoplasia Interphalangeal joint contracture of finger Congenital diaphragmatic hernia Dental malocclusion Short metacarpal Ectodermal dysplasia Intestinal malrotation Broad nasal tip Hypodontia Delayed eruption of teeth Pruritus Lipoma Cigarette-paper scars Hashimoto thyroiditis Talipes Meningitis Aortic valve stenosis Pachygyria Encephalocele Hemiparesis Small nail Pulmonary arterial hypertension Coarctation of aorta Tetralogy of Fallot Esotropia Gastrointestinal hemorrhage Short distal phalanx of finger Cirrhosis Pulmonic stenosis Bicuspid aortic valve Prominent nasal bridge EEG abnormality Osteopenia Cerebellar hypoplasia Thrombocytopenia Hypertonia Blue nevus Vascular ring Displacement of the external urethral meatus Leukocoria Facial hemangioma Short lower limbs Subcutaneous hemorrhage Leukopenia Abnormality of the metacarpal bones Right aortic arch Aplastic/hypoplastic toenail Telecanthus Arthritis Hypospadias Respiratory insufficiency Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Acrania Imperforate hymen Periventricular cysts Absent toe Abnormal pulmonary valve morphology Venous malformation Absent hand Chylothorax Portal hypertension Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Congenital hepatic fibrosis Esophageal varix Pulmonary artery atresia Hypoplastic fingernail Calvarial skull defect Double outlet right ventricle Pulmonary artery stenosis Central hypotonia Cutaneous finger syndactyly Hypoplastic left heart Perisylvian polymicrogyria Skin erosion Hip dislocation Pulmonary embolism Abnormality of the pancreas Multiple renal cysts Hemiplegia/hemiparesis Polycystic kidney dysplasia Sensory neuropathy Visual loss Gait disturbance Visual impairment Abnormal choroid morphology Conjunctival telangiectasia Hemianopia Heterochromia iridis Hearing abnormality Hyperostosis Pancreatic cysts Abnormality of vision Corneal dystrophy Venous thrombosis Cerebral calcification Abnormality of eye movement Attention deficit hyperactivity disorder Autistic behavior Abnormality of the eye Cerebral cortical atrophy Behavioral abnormality Abnormality of nervous system morphology Cerebral ischemia Wide mouth Pheochromocytoma Abnormality of the lymphatic system Cavum septum pellucidum Cutaneous syndactyly Dilation of lateral ventricles Atrial flutter Hemihypertrophy Large earlobe Severe failure to thrive Severe postnatal growth retardation Arnold-Chiari type I malformation Syringomyelia Large for gestational age Nephroblastoma Reduced bone mineral density Ischemic stroke Cutis laxa Shock Neuroendocrine neoplasm Purpura Vesicoureteral reflux Nevus Thick vermilion border Postaxial polydactyly Oral cleft Smooth philtrum Broad forehead Postnatal growth retardation Abnormality of the nervous system Neoplasm of the middle ear Vascular neoplasm Retinal capillary hemangioma Papillary cystadenoma of the epididymis Protruding ear Carious teeth Hodgkin lymphoma Motor delay Intellectual disability, moderate Carcinoma Proximal muscle weakness Autism Recurrent infections Headache Immunodeficiency Kyphosis Diarrhea Myopathy Tremor Skeletal muscle atrophy Myopia Delayed speech and language development Hypoplasia of the maxilla High palate Muscle weakness Hyperextensible skin Hypermobility of distal interphalangeal joints Hemothorax Premature delivery because of cervical insufficiency or membrane fragility Cystocele Hypoplastic lacrimal duct Arteriovenous fistulas of celiac and mesenteric vessels Uterine prolapse Uterine rupture Arterial rupture Foot acroosteolysis Palmoplantar keratoderma Abnormal cerebellum morphology Molluscoid pseudotumors Goiter Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Acute myeloid leukemia Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Breast carcinoma Macroglossia Melanoma Hypopigmented skin patches Drooling Cranial nerve paralysis Neoplasm of the skin Lymphopenia Cafe-au-lait spot Exotropia Chronic diarrhea Broad thumb Intention tremor Decreased antibody level in blood Lymphoma Spontaneous pneumothorax Coronary artery aneurysm Vertigo Aortic aneurysm Dilatation of the cerebral artery Alopecia of scalp Premature loss of teeth Sprengel anomaly Esophageal atresia Hemoptysis Prematurely aged appearance Keratoconus Abnormal joint morphology Fragile skin Abnormal heart valve morphology Aplasia/Hypoplasia of the eyebrow Rheumatoid arthritis Hypokalemia Abnormal eyelash morphology Abnormality of the urinary system Tinnitus Abnormal intestine morphology Short chin Joint dislocation Cardiac arrest Abnormality of the face Osteoarthritis Microdontia Abnormal bleeding High, narrow palate Bruising susceptibility Thin vermilion border Subarachnoid hemorrhage Narrow nose Gingival recession Excessive wrinkled skin Pulmonary artery aneurysm Normal pressure hydrocephalus Peripheral arteriovenous fistula Renovascular hypertension Absent earlobe Arteriovenous fistula Arterial dissection Internal hemorrhage Abnormality of the gingiva Abnormal oral frenulum morphology Gastrointestinal infarctions Dermal translucency Ascending tubular aorta aneurysm Ocular pain Transient ischemic attack Premature loss of primary teeth Periorbital edema Pneumothorax Bladder diverticulum Aplasia/Hypoplasia of the abdominal wall musculature Abnormal pupil morphology Aplasia/Hypoplasia of the earlobes Reduced consciousness/confusion Osteolytic defects of the phalanges of the hand Hematochezia Abnormally large globe Periodontitis Aortic dissection Gingivitis Midclavicular aplasia


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