Hydrocephalus, and Skin rash

Diseases related with Hydrocephalus and Skin rash

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

Top matches:

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

Medium match HARTNUP DISEASE

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Medium match RETINOBLASTOMA; RB1

Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Other less relevant matches:

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.

MULTIPLE SULFATASE DEFICIENCY Is also known as sulfatidosis, juvenile, austin type|mucosulfatidosis|juvenile sulfatidosis, austin type|msd

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE SULFATASE DEFICIENCY

MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

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

Congenital glutamine deficiency is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities (summary by Haberle et al., 2011).

CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY Is also known as glutamine synthase deficiency, congenital systemic|inherited gs deficiency|inherited glutamine synthetase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Hydrocephalus and Skin rash

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Nystagmus Strabismus Cataract Abnormal facial shape Optic atrophy Spasticity Short nose Prominent forehead Ventriculomegaly Neoplasm Glaucoma Abnormality of skin pigmentation Behavioral abnormality Sensorineural hearing impairment Depressed nasal bridge Wide nasal bridge Anteverted nares Growth delay Failure to thrive Micrognathia Headache Ventricular septal defect Abnormality of cardiovascular system morphology Abnormal heart morphology Agenesis of corpus callosum Anal atresia Hypertelorism Hypopigmented skin patches Abnormal cardiac septum morphology Muscular hypotonia Ataxia Hyperreflexia Generalized hypotonia

Rare Symptoms - Less than 30% cases

Hypospadias Congestive heart failure Respiratory distress Dermal atrophy Feeding difficulties Melanoma Atrial septal defect Syndactyly Microphthalmia Diplopia Narrow nasal bridge Hernia Abnormality of the anus Arrhythmia Long philtrum Cutaneous photosensitivity Confusion Hypogonadism Retrognathia Erythema Trigonocephaly Coloboma Astrocytoma Tachycardia Osteosarcoma Chromosome breakage Iris coloboma Intellectual disability, mild Hypothyroidism Respiratory failure Tachypnea High palate Flexion contracture Low-set ears Macrocephaly Recurrent respiratory infections Abnormality of the skeletal system Poikiloderma Cerebral atrophy Camptodactyly Corneal opacity Smooth philtrum Abnormality of retinal pigmentation CNS hypomyelination Cafe-au-lait spot Sarcoma Leukodystrophy Subcutaneous nodule Lower limb hyperreflexia Specific learning disability Brain atrophy Nevus Hypopigmentation of the skin Broad hallux phalanx Abnormality of the cerebral white matter Attention deficit hyperactivity disorder Abnormality of the kidney Intellectual disability, moderate Dyspnea Short thumb Vitritis Intrauterine growth retardation Downslanted palpebral fissures Blindness Malabsorption Anemia Pain Cleft palate Ptosis Abnormal eyelash morphology Vomiting Facial asymmetry Broad forehead Craniosynostosis Frontal bossing Low-set, posteriorly rotated ears Thrombocytopenia Hydronephrosis Retinal dysplasia Visual impairment Anteriorly placed anus Epicanthus Pancytopenia Carcinoma Amblyopia Postural instability Diarrhea Lymphoma Leukemia Proptosis Arteria lusoria Visual loss Dysarthria Scoliosis Hand oligodactyly Abnormality of the carpal bones Metopic synostosis Ulnar bowing Brachyturricephaly Aplasia/Hypoplasia of the patella Lambdoidal craniosynostosis Limited elbow movement Abnormality of the rectum Anal fistula Asymmetric, linear skin defects Cleft earlobe Urogenital fistula Limited shoulder movement Flat forehead Abnormal vitreous humor morphology Talipes equinovarus Brachydactyly Abnormality of the penis Ovotestis Cryptorchidism Functional motor deficit Unilateral radial aplasia Abnormality of the fallopian tube Aphalangy of the hands Anomalous splenoportal venous system Histiocytoid cardiomyopathy Midface capillary hemangioma Chorioretinal dysplasia Orbital cyst Carpal bone aplasia Persistent cloaca Perineal fistula Bicoronal synostosis Aplasia of metacarpal bones Bilateral radial aplasia Patellar hypoplasia Renal dysplasia Anterior plagiocephaly Hypoplasia of the ulna Polymicrogyria Aplasia/Hypoplasia of the thumb Bifid uvula Vesicoureteral reflux Prominent nose Underdeveloped nasal alae Absent thumb Hallux valgus Tracheoesophageal fistula Prominent nasal bridge Hypotelorism Failure to thrive in infancy Hypoplasia of the radius Abnormality of the metacarpal bones Spina bifida occulta Narrow face Abnormal vertebral morphology Bowing of the long bones Short humerus Oligodactyly Oxycephaly Choanal stenosis Motor delay Abnormal localization of kidney Sagittal craniosynostosis Bilateral conductive hearing impairment Myopia Rib fusion Rectovaginal fistula Large fontanelles Coronal craniosynostosis Absent radius Shallow orbits Carpal synostosis Brachycephaly Narrow mouth Abnormality of the ureter Conductive hearing impairment Aplasia/Hypoplasia of the radius Fibular hypoplasia Short neck Tremor Abnormality of the dentition Urethral stenosis Pruritus Papule Abnormality of the curvature of the vertebral column Megakaryocyte dysplasia Congenital thrombocytopenia Bilateral camptodactyly Internal hemorrhage Annular pancreas Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Long hallux Broad nasal tip Abnormality of the head Nasolacrimal duct obstruction Broad columella Abnormal thrombocyte morphology Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Mitral stenosis Ectopic anus Duodenal atresia Eyelid coloboma Chronic constipation Diastasis recti Missing ribs Everted lower lip vermilion Full cheeks Bipolar affective disorder Nevus spillus Subependymal cysts Periventricular cysts Hyperammonemia Abnormal intestine morphology Elbow flexion contracture Bradycardia Thin vermilion border Micromelia Severe global developmental delay Respiratory tract infection Apnea Encephalopathy Hypoplasia of the corpus callosum Respiratory insufficiency Congenital giant melanocytic nevus Round face Prominence of the premaxilla Epidermal nevus Cutaneous melanoma Narrow nasal ridge Thick hair Rhabdomyosarcoma Periorbital fullness Calvarial skull defect Hypermelanotic macule Melanocytic nevus Deep philtrum Neoplasm of the skin Generalized hirsutism Open mouth Double outlet right ventricle Wheezing Immunodeficiency Postnatal growth retardation Decreased antibody level in blood Intestinal malrotation Premature birth Microcornea Single transverse palmar crease Bruising susceptibility Talipes Narrow chest Toe syndactyly Dolichocephaly Hip dislocation Mandibular aplasia Small for gestational age Finger syndactyly Feeding difficulties in infancy Growth hormone deficiency Telecanthus Hypoglycemia Thin upper lip vermilion Pes planus Osteopenia High forehead Osteoporosis Constipation Clinodactyly of the 5th finger Inguinal hernia Patent ductus arteriosus Clinodactyly Pectus excavatum Recurrent infections Webbed neck Otitis media Transposition of the great arteries Infantile muscular hypotonia Natal tooth Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Flat occiput Hammertoe Heart murmur Chorioretinal coloboma Ectropion Hand polydactyly Pyloric stenosis Schizophrenia Abnormal palate morphology Microdontia Azoospermia Holoprosencephaly Multicystic kidney dysplasia Horseshoe kidney Bone marrow hypocellularity Spina bifida Aortic valve stenosis Short toe Sinusitis Pachygyria Abnormal form of the vertebral bodies Coarctation of aorta Eczema Dehydration Neurological speech impairment Sacral dimple Overriding aorta Pinealoma Stroke Autistic behavior Irritability Autism Hyperactivity Dilatation Renal insufficiency Abnormality of amino acid metabolism Hypertension Neuroblastic tumors Pineoblastoma Retinal calcification Iris neovascularization Nausea Pineal cyst Ewing sarcoma Hyphema Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Histiocytoma Burkitt lymphoma Fibrosarcoma Glioblastoma multiforme Malar rash Leukocoria Cough Retinal detachment Leiomyosarcoma Infantile spasms Gingival fibromatosis Pneumothorax Brain neoplasm Wolff-Parkinson-White syndrome White hair Renal neoplasm Generalized hypopigmentation Abnormality of the respiratory system Skin tags Hyperventilation Renal cell carcinoma Hamartoma Nephroblastoma Sleep disturbance Aortic aneurysm Precocious puberty Polycystic kidney dysplasia Hypoplasia of dental enamel Heterotopia Cardiomegaly Generalized-onset seizure Cerebral calcification Focal-onset seizure Gliosis Chest pain Renal cyst Soft tissue sarcoma Anisocoria Fibroma Migraine Irregular hyperpigmentation Insomnia Emotional lability Encephalitis Abnormality of vision Aminoaciduria Hallucinations Chronic diarrhea Inflammatory abnormality of the skin Psychosis Abnormal blistering of the skin Aciduria Hepatic steatosis Gingivitis Cirrhosis Vertigo Unsteady gait Abnormality of the eye Anxiety EEG abnormality Photophobia Gastroesophageal reflux Gait ataxia Depressivity Fever Hypertonia Delusions Bruxism Ocular pain Anorexia Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Acute monocytic leukemia Anemia of inadequate production Uveitis Acute myeloid leukemia Cellulitis Neurofibromas Myelodysplasia Increased intracranial pressure Numerous pigmented freckles Episodic ataxia Weight loss Malar flattening Cognitive impairment Neutral hyperaminoaciduria Grasp reflex Glabellar reflex Hyperphenylalaninemia Neural tube defect Glossitis Mood changes Abnormal urinary color Methylmalonic aciduria Chylothorax Adenoma sebaceum Tricuspid valve prolapse Retinal dystrophy Mutism Gait disturbance Intellectual disability, progressive Abnormality of dental enamel Abnormality of the nail Hyperpigmentation of the skin Mitral regurgitation Status epilepticus Congenital diaphragmatic hernia Ambiguous genitalia Mitral valve prolapse Pigmentary retinopathy Wide nose Clitoral hypertrophy Retinopathy Nail dystrophy Dilated cardiomyopathy Dry skin Blepharophimosis Hypertrophic cardiomyopathy Micropenis Severe short stature Abnormality of metabolism/homeostasis Midface retrusion Cardiomyopathy Cachexia Patent foramen ovale Anophthalmia Basal cell carcinoma Male pseudohermaphroditism Abnormal nasolacrimal system morphology Epispadias Abnormality of earlobe Chordee Periventricular leukomalacia Colpocephaly Abnormality of the testis Supraventricular tachycardia Echolalia Abnormal eyelid morphology Ocular albinism Sclerocornea Posterior embryotoxon Ventricular fibrillation Anencephaly Aplasia cutis congenita Absent septum pellucidum Aplasia/Hypoplasia of the skin Abnormality of the ear Congenital glaucoma Hypoplasia of the uterus Dysphasia Aphasia Albinism Preauricular pit Tricuspid regurgitation Urticaria Rapid neurologic deterioration Flank pain Pulmonary lymphangiomyomatosis Cerebellar atrophy Demyelinating peripheral neuropathy Dysphagia Hepatomegaly Arteriosclerosis Delayed speech and language development Squamous cell carcinoma of the skin Projection of scalp hair onto lateral cheek Achromatic retinal patches Subungual fibromas Rhabdomyoma Connective tissue nevi Chordoma Prematurely aged appearance Cortical tubers Cardiac rhabdomyoma Ungual fibroma Dental enamel pits Hypomelanotic macule Subependymal nodules Optic nerve glioma Angiofibromas Renal angiomyolipoma Premature chromatid separation Ependymoma Shagreen patch Splenomegaly Coarse facial features Urinary glycosaminoglycan excretion Broad hallux Retrocerebellar cyst Hypoplastic vertebral bodies Mucopolysacchariduria Abnormality of peripheral nerve conduction Periorbital edema CNS demyelination Olivopontocerebellar atrophy Developmental stagnation Large forehead Dysostosis multiplex Increased CSF protein Abnormality of the periventricular white matter Coarse hair Hepatosplenomegaly Broad thumb Progressive neurologic deterioration Peripheral demyelination Neurodegeneration Thick eyebrow Flat face Retinal degeneration Ichthyosis Dysmetria Joint stiffness Developmental regression Mental deterioration Neonatal hypotonia Necrolytic migratory erythema


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