Hydrocephalus, and Hypopigmentation of the skin

Diseases related with Hydrocephalus and Hypopigmentation of the skin

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Hypopigmentation of the skin 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

Low 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

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Other less relevant matches:

GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

Low match CROUZON DISEASE

Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

CROUZON DISEASE Is also known as crouzon craniofacial dysostosis|craniofacial dysostosis, type i|cfd1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CROUZON DISEASE

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

Low match MUENKE SYNDROME

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

Low match MEND SYNDROME

MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.

MICROPHTHALMIA WITH LIMB ANOMALIES Is also known as waardenburg anophthalmia syndrome|waardenburg syndrome, type ivc|waardenburg syndrome with hirschsprung disease, type 4c|oas|anophthalmia-syndactyly syndrome|ophthalmoacromelic syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES

Top 5 symptoms//phenotypes associated to Hydrocephalus and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypopigmented skin patches Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Global developmental delay Frontal bossing Hypertelorism High palate Strabismus Prominent forehead Midface retrusion Respiratory insufficiency Downslanted palpebral fissures Generalized hypotonia Ataxia Cleft palate Muscular hypotonia Headache Increased intracranial pressure Acanthosis nigricans Optic atrophy Hypoplasia of the maxilla Brachydactyly Craniosynostosis Proptosis Brachycephaly Dental malocclusion Nystagmus Sensorineural hearing impairment White hair Abnormality of the skeletal system Melanocytic nevus Congestive heart failure Nevus Hearing impairment

Rare Symptoms - Less than 30% cases

Broad hallux Low-set ears Abnormal form of the vertebral bodies Choanal atresia Epidermal acanthosis Convex nasal ridge Cardiomegaly Esophageal atresia Conductive hearing impairment Posteriorly rotated ears High forehead Respiratory distress Abnormality of the metacarpal bones Trigonocephaly Malar flattening Renal insufficiency Coronal craniosynostosis Lambdoidal craniosynostosis Hypertension Hyperactivity Intellectual disability, moderate Arnold-Chiari malformation Turricephaly Ventricular septal defect Splenomegaly Premature graying of hair Ascites Micrognathia Cryptorchidism Abnormal eyebrow morphology Abnormal cardiac septum morphology Anteverted nares Dilatation Hepatosplenomegaly Syndactyly Vomiting Toe syndactyly Edema Hepatomegaly Bicoronal synostosis Autistic behavior Craniofacial dysostosis Low-set, posteriorly rotated ears Hypoplasia of the corpus callosum Cloverleaf skull Choanal stenosis Tarsal synostosis Visual impairment Abnormal sacrum morphology Hypertonia Hypermelanotic macule Subcutaneous nodule Skin rash Spasticity Long philtrum Anxiety Cognitive impairment Fever Neoplasm Hyperreflexia Migraine Optic nerve glioma Pulmonary lymphangiomyomatosis White eyelashes Renal angiomyolipoma Subependymal nodules Macrodontia Angiofibromas Dental enamel pits Ungual fibroma Premature chromatid separation Arrhinencephaly Cardiac rhabdomyoma Cortical tubers Chordoma Hypomelanotic macule Rhabdomyoma Connective tissue nevi Clinodactyly Febrile seizures Short foot High, narrow palate Short palm Heterochromia iridis Large earlobe Abnormality of the lower limb Apnea Abnormality of the upper limb Abnormality of the thumb Hand oligodactyly White forelock Venous insufficiency Intestinal pseudo-obstruction Dysphagia Macrocephaly Projection of scalp hair onto lateral cheek Achromatic retinal patches Subungual fibromas Ependymoma Foot oligodactyly Self-injurious behavior Shagreen patch Focal-onset seizure Lacrimal gland hypoplasia CNS hypomyelination Tachypnea Cafe-au-lait spot Hypoplasia of dental enamel Heterotopia Generalized-onset seizure Cerebral calcification Specific learning disability Brain atrophy Precocious puberty Gliosis Camptodactyly of 2nd-5th fingers Chest pain Renal cyst Sleep disturbance Retinal detachment Nausea Abnormality of the cerebral white matter Cough Polycystic kidney dysplasia Hypoplasia of the premaxilla Flank pain Wolff-Parkinson-White syndrome Adenoma sebaceum Bradycardia Fibroma Chylothorax White eyebrow Gingival fibromatosis Pneumothorax Astrocytoma Brain neoplasm Renal neoplasm Aortic aneurysm Generalized hypopigmentation Abnormality of the respiratory system Synostosis of joints Skin tags Hyperventilation Renal cell carcinoma Hamartoma Infantile spasms Nephroblastoma Bilateral sensorineural hearing impairment Radial deviation of finger Low anterior hairline Finger syndactyly Talipes equinovarus Intellectual disability, severe Microphthalmia Wide nose Clinodactyly of the 5th finger Hypogonadism Bulbous nose Blepharophimosis Hip dislocation Olivopontocerebellar hypoplasia Joint hyperflexibility Long face Cleft upper lip Thin vermilion border Ichthyosis Smooth philtrum Postaxial hand polydactyly Prominent nasal bridge Bowing of the long bones Depressed nasal bridge Hypoplastic aortic arch Broad thumb Single transverse palmar crease Sacral dimple Microretrognathia Narrow palpebral fissure Aortic valve stenosis Narrow forehead Dandy-Walker malformation Wide intermamillary distance Esotropia 2-3 toe syndactyly Spotty hypopigmentation Thick vermilion border Overlapping toe Ectopic kidney Long fingers Epiphyseal stippling Narrow nose Overlapping fingers Otosclerosis Long neck Aganglionic megacolon Bilateral single transverse palmar creases Plagiocephaly Carpal synostosis Craniofacial asymmetry Parietal foramina Abnormality of the head Anterior plagiocephaly Oxycephaly Aqueductal stenosis Upper airway obstruction Cone-shaped epiphyses of the phalanges of the hand Fibular hypoplasia Synostosis of carpals/tarsals Hypopigmentation of hair Synostosis of carpal bones Postaxial foot polydactyly Short middle phalanx of finger Tracheoesophageal fistula Short tibia Overfolded helix Blue irides Cone-shaped epiphysis Hemimegalencephaly Capitate-hamate fusion Horseshoe kidney Polydactyly Muscular hypotonia of the trunk Sandal gap Aggressive behavior Deeply set eye Anosmia Skeletal dysplasia Polyhydramnios Cerebral cortical atrophy Agenesis of corpus callosum Short middle phalanx of toe Ventriculomegaly Short long bone Cataract Elbow dislocation Scoliosis Tibial bowing Thimble-shaped middle phalanges of hand Low-frequency sensorineural hearing impairment Unicoronal synostosis Stroke Amenorrhea Attention deficit hyperactivity disorder Bruxism Grasp reflex Glabellar reflex Hyperphenylalaninemia Neural tube defect Glossitis Mood changes Abnormal urinary color Methylmalonic aciduria Episodic ataxia Gingivitis Feeding difficulties Delusions Irregular hyperpigmentation Insomnia Emotional lability Encephalitis Abnormality of vision Aminoaciduria Hallucinations Diplopia Neutral hyperaminoaciduria Dry skin Inflammatory abnormality of the skin Recurrent infections Abnormal cerebellum morphology Neutropenia Lymphadenopathy Abnormality of movement Nausea and vomiting Lethargy Rigidity Jaundice Thrombocytopenia Immunodeficiency Short metacarpal Short uvula Membranous nephropathy Brachyturricephaly Inflammatory abnormality of the eye Proportionate short stature Aplasia/Hypoplasia of the cerebellum Glomerulonephritis Laryngomalacia Abnormal palate morphology Chronic diarrhea Cutaneous photosensitivity Decreased antibody level in blood Generalized hirsutism Thick hair Rhabdomyosarcoma Periorbital fullness Calvarial skull defect Narrow nasal bridge Deep philtrum Sarcoma Melanoma Neoplasm of the skin Open mouth Cutaneous melanoma Round face Full cheeks Broad nasal tip Everted lower lip vermilion Abnormality of skin pigmentation Pruritus Papule Broad forehead Short nose Narrow nasal ridge Epidermal nevus Psychosis EEG abnormality Abnormal blistering of the skin Aciduria Hepatic steatosis Cirrhosis Vertigo Unsteady gait Confusion Malabsorption Abnormality of the eye Photophobia Prominence of the premaxilla Gastroesophageal reflux Gait ataxia Depressivity Diarrhea Gait disturbance Tremor Dysarthria Nevus spillus Congenital giant melanocytic nevus Sepsis Peripheral demyelination Irritability Dental crowding Syringomyelia Gonadal dysgenesis Keratitis Atresia of the external auditory canal Sleep apnea Torticollis Conjunctivitis Narrow palate Amblyopia Primary amenorrhea Shallow orbits Iris coloboma Delayed puberty Cleft lip Mandibular prognathia Cerebellar hypoplasia Abnormality of the dentition Abnormal facial shape Fetal ascites J-shaped sella turcica Scaphocephaly Papilledema Visceromegaly Behavioral abnormality Abnormality of the kidney Carcinoma Dyspnea Hypothyroidism Autism Respiratory failure Glaucoma Arrhythmia Intellectual disability, mild Pain Abnormality of the skull Cartilaginous trachea Narrow internal auditory canal Multiple suture craniosynostosis Dysgerminoma Abnormality of the nasopharynx Short upper lip Abnormality of the cervical spine Sagittal craniosynostosis Gonadoblastoma Vacuolated lymphocytes Conjugated hyperbilirubinemia Hepatitis Albinism Partial albinism Hemophagocytosis Generalized edema Edema of the lower limbs Abnormal eyelash morphology Pulmonary infiltrates Abnormality of lipid metabolism Iris hypopigmentation Petechiae Pyloric stenosis Reduced delayed hypersensitivity Reduced tendon reflexes Cranial nerve paralysis Leukopenia Hyperlipidemia Recurrent bacterial infections Bone marrow hypocellularity Encephalocele Progressive neurologic deterioration Pancytopenia Abnormality of neutrophils Cutaneous anergy Dysostosis multiplex Severe global developmental delay Fair hair Metaphyseal irregularity Abnormality of the thorax Aspiration Hydrops fetalis Gingival overgrowth Nephrotic syndrome Premature birth Abnormality of the foot Corneal opacity Silver-gray hair Respiratory tract infection Coarse facial features Osteopenia Inguinal hernia Hernia Cerebral atrophy Cerebellar atrophy Epicanthus Accumulation of melanosomes in melanocytes Melanin pigment aggregation in hair shafts True anophthalmia


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