Hydrocephalus, and Papule

Diseases related with Hydrocephalus and Papule

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

Top matches:

A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.

LHERMITTE-DUCLOS DISEASE Is also known as dysplastic gangliocytoma of the cerebellum|ldd

Related symptoms:

  • Seizures
  • Ataxia
  • Macrocephaly
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET MENDELIAN

More info about LHERMITTE-DUCLOS DISEASE

Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia (see this term).

LIGNEOUS CONJUNCTIVITIS Is also known as conjunctivitis lignosa

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Macrocephaly
  • Hydrocephalus
  • Blindness


SOURCES: ORPHANET MENDELIAN

More info about LIGNEOUS CONJUNCTIVITIS

Other less relevant matches:

Medium match HYPOPLASMINOGENEMIA

Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.

HYPOPLASMINOGENEMIA Is also known as plasminogen deficiency type 1

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hyperreflexia
  • Macrocephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOPLASMINOGENEMIA

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

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

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

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

Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.

PAPILLON-LEFÈVRE SYNDROME Is also known as keratosis palmoplantar-periodontopathy syndrome|pls|keratosis palmoplantaris with periodontopathia

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Recurrent respiratory infections
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PAPILLON-LEFÈVRE SYNDROME

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.

TUBEROUS SCLEROSIS COMPLEX Is also known as tuberous sclerosis|bourneville syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about TUBEROUS SCLEROSIS COMPLEX

Top 5 symptoms//phenotypes associated to Hydrocephalus and Papule

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Subcutaneous nodule Skin tags Gingivitis Hearing impairment Hypopigmented skin patches Hypotrichosis Iris coloboma Neoplasm of the skin Cerebral calcification Astrocytoma Blindness Macule Dandy-Walker malformation Hand polydactyly Increased intracranial pressure Brachydactyly Hamartoma Cerebellar hypoplasia Scarring Abnormality of the dentition Nephritis Premature loss of teeth Microphthalmia Ataxia Abnormality of the larynx Stomatitis Coloboma Abnormality of the mediastinum Cryptorchidism Periodontitis Carcinoma Scoliosis Hypertelorism Cognitive impairment Melanoma Micrognathia Melanocytic nevus Nevus Motor delay Failure to thrive Palmoplantar keratoderma

Rare Symptoms - Less than 30% cases

Spasticity Hydronephrosis EEG abnormality Hyperhidrosis Abdominal pain Corneal opacity Cafe-au-lait spot Bone cyst Low-set ears Fibroma Polydactyly Delayed speech and language development Hamartomatous polyposis Agenesis of corpus callosum Short stature Cardiac rhabdomyoma Alopecia Linear hyperpigmentation Behavioral abnormality Palmoplantar hyperkeratosis Atrial septal defect Abnormality of the nail Ventricular septal defect Recurrent skin infections Nevus flammeus Microcephaly Dilatation Lipoma Hypoplasia of the iris Aplasia cutis congenita Reduced number of teeth Autism Ovarian carcinoma Multiple lipomas Cortical dysplasia Downslanted palpebral fissures Frontal bossing Abnormality of the middle ear Abnormality of the skeletal system Hemangioma Telangiectasia Cataract Pain Cleft palate Osteolysis Muscle stiffness Syndactyly Pectus excavatum Hemiparesis Overgrowth Erythema Strabismus Hypothyroidism Nail dystrophy Sparse hair Subcutaneous lipoma Neoplasm of the thyroid gland Nausea and vomiting Polymicrogyria Macroglossia Cranial nerve paralysis Ovarian neoplasm Acrokeratosis Fibroadenoma of the breast Exotropia Enlarged cerebellum Abnormality of the respiratory system Hyperreflexia Recurrent otitis media Nephrolithiasis Gingival overgrowth Headache Fragile nails Conjunctivitis Broad nasal tip Adenoma sebaceum Vertebral fusion Colitis Pruritus Abnormality of skin pigmentation Papilloma Spina bifida occulta Rhabdomyosarcoma Generalized hirsutism Short ribs Hypermelanotic macule Narrow nasal bridge Spina bifida Bradycardia Recurrent pneumonia Trichilemmoma Abnormality of vision Cervicitis Hoarse voice Optic atrophy Cleft lip Renal cell carcinoma Carious teeth Visual loss Arachnodactyly Recurrent upper respiratory tract infections Hypoplasia of the corpus callosum Generalized hypotonia Abnormality of the skin Vaginitis Multiple cafe-au-lait spots Chronic irritative conjunctivitis Abnormality of fontanelles Ulcerative colitis Epiphora Recurrent bronchitis Cleft upper lip Recurrent pharyngitis Poor wound healing Keratoconjunctivitis Duodenal ulcer Gastrointestinal inflammation Abnormality of the gallbladder Multicystic kidney dysplasia Oligodontia Chorioretinal coloboma Abnormality of digit Renal hypoplasia/aplasia Abnormality of dental enamel Arnold-Chiari malformation Abnormality of dental morphology Ectopia lentis Aplasia/Hypoplasia of the skin Horseshoe kidney Mixed hearing impairment Short finger Ectropion Supernumerary nipple Open bite Mild short stature Anophthalmia Brittle hair Dermal atrophy Short metatarsal Stridor Camptodactyly Congenital hip dislocation Multiple trichilemmomata Inguinal hernia Abnormal heart morphology Patent ductus arteriosus Clinodactyly Obesity Hernia Abnormality of cardiovascular system morphology Dysphagia Intrauterine growth retardation Ptosis Nystagmus Growth delay Lobular carcinoma in situ Merkel cell skin cancer Reduced visual acuity Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Cutis marmorata telangiectatica congenita Transitional cell carcinoma of the bladder Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Weight loss Gastroesophageal reflux Pointed chin Short metacarpal Increased body weight Short phalanx of finger Abnormality of epiphysis morphology Hypoplasia of dental enamel Omphalocele Thin skin Split hand Renal hypoplasia Interphalangeal joint contracture of finger Congenital diaphragmatic hernia Postaxial hand polydactyly Nail dysplasia Dental malocclusion Ectodermal dysplasia Umbilical hernia Intestinal malrotation Hypodontia Delayed eruption of teeth Facial asymmetry Abnormality of the foot Toe syndactyly Finger syndactyly Microtia Cough Camptodactyly of finger Abnormal cardiac septum morphology Abnormality of the pinna Anteriorly placed anus Joint laxity Telangiectasia of the skin Absent fingernail Hypoplastic nipples Congestive heart failure Abnormality of neuronal migration Precocious puberty Atrioventricular block Aplasia/Hypoplasia of the corpus callosum Generalized-onset seizure Specific learning disability Renal cyst Attention deficit hyperactivity disorder Abnormality of the liver Anxiety Arrhythmia Renal insufficiency Respiratory insufficiency Prominent occiput Atrophy of alveolar ridges Halitosis Chronic furunculosis Severe periodontitis Choroid plexus calcification Recurrent cutaneous abscess formation Cigarette-paper scars Liver abscess Plantar hyperkeratosis Premature loss of primary teeth Pustule Sparse body hair Emphysema Infantile spasms Keratitis Angiofibromas Rhabdomyoma Subungual fibromas Achromatic retinal patches Pulmonary lymphangiomyomatosis Confetti-like hypopigmented macules Ungual fibroma Dental enamel pits Hypomelanotic macule Subependymal nodules Cortical tubers Chordoma Retinal hamartoma Renal angiomyolipoma Multiple renal cysts Optic nerve glioma Macrodactyly Shagreen patch Ependymoma Third degree atrioventricular block Chylothorax Abnormality of the pleura Pneumothorax Gingival fibromatosis Abnormality of the pancreas Wolff-Parkinson-White syndrome Neoplasm of the pancreas Squamous cell carcinoma Scaling skin Facial cleft Duodenal atresia Abnormal cornea morphology Hand oligodactyly Ureteral duplication Bifid nose Skin nodule Anomalous pulmonary venous return Hypoplasia of teeth Cholangitis Labial hypoplasia Verrucae Lower limb asymmetry Hypoplastic pelvis Acute hepatic failure Total anomalous pulmonary venous return Diastasis recti Truncus arteriosus Myelomeningocele Stenosis of the external auditory canal Aplasia/Hypoplasia of the lungs Hiatus hernia Split foot Foot polydactyly Aniridia Short clavicles Oligodactyly Ectrodactyly Abnormality of hair texture Inspiratory stridor Abnormality of the fingernails Nonproductive cough Hypertrichosis Hyperkeratosis Recurrent respiratory infections Midclavicular aplasia Midclavicular hypoplasia Giant cell tumor of bone Apocrine hidrocystoma Cholesteatoma Ectopia cordis Bifid ureter Abnormal adipose tissue morphology Abnormality of the pulmonary vasculature Osteopathia striata Clitoral hypoplasia Cleft ala nasi Abnormal palmar dermatoglyphics Caudal appendage Ridged fingernail Absence of the sacrum Patchy alopecia Upper limb asymmetry Reticular hyperpigmentation Angioid streaks of the fundus Foot oligodactyly Rough bone trabeculation Absent toenail Intestinal polyp Cardiac fibroma Abnormality of the penis Echolalia Abnormal aortic morphology Visceral angiomatosis Glioma Interrupted aortic arch Porencephalic cyst Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Craniofacial hyperostosis Xanthomatosis Hemihypertrophy Ectopia pupillae Abnormal anterior chamber morphology Dysostosis multiplex Eyelid coloboma Abnormal eyelid morphology Sclerocornea Capillary hemangioma Abnormality of the skull Arachnoid cyst Abnormal eyelash morphology Absent septum pellucidum Dysphasia Aphasia Alopecia areata Subcortical cerebral atrophy Hemiplegia Dysarthria Telecanthus Proteinuria Coarse facial features Retrognathia Kyphoscoliosis Mandibular prognathia Proptosis Glaucoma Brachycephaly Wide nasal bridge Epicanthus Abnormal nasolacrimal system morphology Lipomas of the central neryous system Abnormal cartilage morphology Osteochondrosis Odontoma Neurodevelopmental abnormality Neoplasm of the skeletal system Pelvic kidney Chorioretinitis Hemiatrophy Tricuspid valve prolapse Epibulbar dermoid Lipodystrophy Mutism Oral cleft Thick hair Abnormality of the eye Pneumonia Abnormality of metabolism/homeostasis Hypercoagulability Nevus spillus Congenital giant melanocytic nevus Prominence of the premaxilla Epidermal nevus Cutaneous melanoma Narrow nasal ridge Periorbital fullness Otitis media Calvarial skull defect Deep philtrum Sarcoma Open mouth Round face Full cheeks Everted lower lip vermilion Broad forehead Prominent forehead Long philtrum Short nose Asthma Sinusitis Sacral dimple Skeletal dysplasia Aortic valve stenosis Abnormality of the face Pulmonary arterial hypertension Intellectual disability, profound Coarctation of aorta Tetraplegia Neurological speech impairment Retinopathy Paralysis Rigidity Cerebral cortical atrophy Venous thrombosis Cerebral atrophy Hypertonia Ventriculomegaly Pneumomediastinum Decreased level of plasminogen Geographic tongue Reduced factor XII activity Abnormality of the fallopian tube Abnormality of the ovary Abnormality of the ear Chronic otitis media Facial palsy Postaxial polydactyly Colonic diverticula Broad thumb Cutis marmorata Intracranial hemorrhage Dysdiadochokinesis Incoordination Goiter Breast carcinoma Drooling Lymphopenia Gynecomastia Chronic diarrhea Intention tremor Cystic hygroma Decreased antibody level in blood Lymphoma Abnormal cerebellum morphology Hypoplasia of the maxilla Joint hypermobility Leukemia Abnormality of the kidney Intellectual disability, moderate Proximal muscle weakness Narrow mouth Recurrent infections Abnormality of the thyroid gland Cellulitis Kyphosis Furrowed tongue Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Enlarged polycystic ovaries Cavernous hemangioma Long penis Cellular immunodeficiency Intestinal polyposis Ovarian cyst Abnormality of the uterus Arteriovenous malformation Acute myeloid leukemia Hydrocele testis Meningioma Megalencephaly Prolactin excess Papilledema Abnormality of the vasculature Scaphocephaly Hashimoto thyroiditis Hodgkin lymphoma Thyroiditis Hyperthyroidism Immunodeficiency Intellectual disability, mild Hypotension Abnormality of the sternum Medulloblastoma Brain neoplasm Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Down-sloping shoulders Narrow nose Sprengel anomaly Thoracic scoliosis Agenesis of permanent teeth Supernumerary ribs Long fingers Basal cell carcinoma Milia Disproportionate tall stature Inflammation of the large intestine Glomerulonephritis Relative macrocephaly Hemivertebrae Hypogonadotrophic hypogonadism Hyperpigmentation of the skin Abnormality of the ribs Ectopic calcification Cervical ribs Diarrhea Ovarian fibroma Myopathy Tremor Skeletal muscle atrophy Myopia High palate Muscle weakness Hamartomatous stomach polyps Irregular ossification of hand bones Bridged sella turcica Plantar pits Odontogenic keratocysts of the jaw Abnormality of the sense of smell Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Parietal bossing Vertebral wedging Subependymal giant-cell astrocytoma


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