Hydrocephalus, and Type II diabetes mellitus

Diseases related with Hydrocephalus and Type II diabetes mellitus

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

Top matches:

High match CRANIOPHARYNGIOMA

Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about CRANIOPHARYNGIOMA

Medium match DOWN SYNDROME

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Other less relevant matches:

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

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

'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II Is also known as majewski osteodysplastic primordial dwarfism type ii|osteodysplastic primordial dwarfism, type ii|mopd ii|mopd type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II

Top 5 symptoms//phenotypes associated to Hydrocephalus and Type II diabetes mellitus

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

Other less frequent symptoms

Patients with Hydrocephalus and Type II diabetes mellitus. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Gait disturbance Hypothyroidism Macrocephaly Diabetes mellitus Ventriculomegaly Hearing impairment Scoliosis Anemia Muscular hypotonia Dysarthria Cognitive impairment Hyperreflexia Depressivity Hypertelorism Frontal bossing Intellectual disability, mild Ataxia Neoplasm Hypogonadism Behavioral abnormality Edema Malar flattening Developmental regression Conductive hearing impairment Anteverted nares Atrial septal defect Dementia Overgrowth Short neck Abnormality of the dentition Gliosis Brachydactyly Epicanthus Hypertension Depressed nasal bridge Cataract Hip dysplasia Abnormality of the cerebral white matter Neurodegeneration Recurrent infections Sensorineural hearing impairment Motor delay Hepatomegaly Vomiting Abnormality of the skeletal system Hypoplasia of the corpus callosum Kyphosis Strabismus Hernia Obesity Delayed skeletal maturation Gait ataxia Osteopenia Hepatosplenomegaly Broad forehead Anxiety Umbilical hernia Sleep apnea Wide nasal bridge Failure to thrive Delayed puberty Severe short stature Epidermal acanthosis Ptosis Amenorrhea Cerebral calcification

Rare Symptoms - Less than 30% cases

Mandibular prognathia Areflexia Agenesis of corpus callosum Babinski sign Recurrent respiratory infections Feeding difficulties Abnormal facial shape Macrotia High palate Abnormal pyramidal sign Coarse facial features Arthritis Mental deterioration Pectus carinatum Hypermetropia Skeletal dysplasia Splenomegaly Clonus Short distal phalanx of finger Plagiocephaly Nystagmus Poor coordination Muscle weakness Spasticity Delayed speech and language development Truncal obesity Narrow chest Skeletal muscle atrophy Midface retrusion Gynecomastia Self-injurious behavior Precocious puberty Intellectual disability, severe Myopathy Cerebellar atrophy Insulin-resistant diabetes mellitus Genu valgum Abnormality of the foot Thick eyebrow Dysmetria Abnormality of eye movement Abnormal cardiac septum morphology Slender long bone Chorea Narrow palpebral fissure Growth hormone deficiency High pitched voice Infertility Downslanted palpebral fissures Flexion contracture Schizophrenia Tremor Cough Aggressive behavior Weight loss Sparse scalp hair Nevus Acanthosis nigricans Dysphagia Bradykinesia Ventricular septal defect Micrognathia Hypertrichosis Intrauterine growth retardation Progressive cerebellar ataxia Restlessness Delayed myelination Decreased antibody level in blood Otitis media Muscle fibrillation Peripheral demyelination Progressive neurologic deterioration Low-set ears Tall stature Gingival overgrowth Bowel incontinence Bronchitis Severe sensorineural hearing impairment Full cheeks Patent ductus arteriosus Retinopathy Osteolysis Hypergonadotropic hypogonadism Neurological speech impairment Prominent nasal bridge Downturned corners of mouth Congenital hypothyroidism Hypotension Increased body weight Increased intracranial pressure Narrow palate Depressed nasal ridge Thick lower lip vermilion Microdontia Macroglossia Brachycephaly Sleep disturbance Flat face Proportionate short stature Hypotrichosis Microtia Joint laxity Myopia Abnormal heart morphology Clinodactyly of the 5th finger Narrow mouth Polycythemia Upslanted palpebral fissure Confusion Headache Nausea and vomiting Optic atrophy Hypoplastic iliac wing Constipation Postnatal growth retardation Cyanosis Short 1st metacarpal Abnormality of the cerebral vasculature Abdominal distention Rootless teeth Triangular face Aplasia/Hypoplasia of the earlobes Ascites Hypodontia Arterial stenosis Cirrhosis Hypoplastic scapulae Long clavicles Astigmatism Dolichocephaly Small for gestational age Ulnar bowing Alveolar process hypoplasia Intellectual disability, moderate Abnormality of the nervous system Shortening of all distal phalanges of the fingers Pigmentary retinopathy Ivory epiphyses Tracheal stenosis Cachexia Congenital cataract Microglossia Scaphocephaly Synophrys Pericarditis Aplasia/Hypoplasia of the eyebrow Limited elbow extension Pulmonary fibrosis Tibial bowing Nephroblastoma Premature ovarian insufficiency Reduced tendon reflexes Abnormality of female external genitalia Distal amyotrophy Disproportionate short stature Multiple cafe-au-lait spots Pointed chin Dilatation of the cerebral artery Insulin resistance Severe intrauterine growth retardation Dental crowding Severe postnatal growth retardation Radial bowing Increased intraocular pressure Congestive heart failure Hypoplasia of the maxilla Cardiomyopathy Sparse body hair Moyamoya phenomenon Dystrophic fingernails Broad face Progressive gait ataxia Straight clavicles Thoracic kyphosis Irregular vertebral endplates Proximal femoral epiphysiolysis Striae distensae Hip contracture Paraparesis Generalized osteoporosis High iliac wings Basal ganglia calcification Ankle clonus Mixed hearing impairment Knee flexion contracture Anonychia Metatarsus adductus Spastic paraparesis Bilateral cryptorchidism Projectile vomiting Melanocytic nevus Tics Bone cyst Narrow pelvis bone Absent axillary hair Large sella turcica Abnormal palate morphology Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Posterior polar cataract Recurrent ear infections Overtubulated long bones Forearm undergrowth Pseudoepiphyses of the metacarpals Distal symphalangism Abnormal glucose tolerance Generalized microdontia Abnormal form of the vertebral bodies Thickened skin Narrow iliac wings Thin clavicles Ectopic calcification Pseudoepiphyses Reticulocytopenia Flared metaphysis Hemiparesis Joint hyperflexibility Micromelia Dry skin Varicose veins Abnormality of skin pigmentation Prominent nose Underdeveloped nasal alae Convex nasal ridge Limb undergrowth Sloping forehead Aspiration pneumonia Fine hair Abnormal eyebrow morphology Stroke Protruding ear Abnormality of the metaphysis Hypoplasia of dental enamel Abnormality of epiphysis morphology Cafe-au-lait spot Enlarged kidney Coxa valga Exocrine pancreatic insufficiency Episodic fever Coxa vara Hypopigmented skin patches Laryngomalacia Communicating hydrocephalus Attention deficit hyperactivity disorder Lipoatrophy Stiff skin Abnormality of cardiovascular system physiology Pancreatic hypoplasia Broad finger Histiocytosis Hyperplasia of the maxilla Corneal arcus Generalized lymphadenopathy Myelofibrosis Facial telangiectasia Panniculitis Episcleritis Snoring Cervical lymphadenopathy Decreased serum testosterone level Skin nodule Bilateral camptodactyly Upper eyelid edema Retroperitoneal fibrosis Seborrheic keratosis Microcephaly Dilatation Nasal obstruction Recurrent pharyngitis Hypospadias High forehead Retrognathia Scleroderma Microcytic anemia Myocardial fibrosis Pneumonia Lymphadenopathy Malabsorption Apnea Abnormality of the kidney Camptodactyly Low-set, posteriorly rotated ears Pes planus Dyspnea Proptosis Micropenis Hyperkeratosis Posteriorly rotated ears Alopecia Cleft upper lip Short middle phalanx of finger Clinodactyly Fever Pericardial constriction Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Chronic rhinitis Fibroma Weak voice Prominent superficial veins Ichthyosis Polyneuropathy Reduced number of teeth Elbow flexion contracture Nasal speech Elevated erythrocyte sedimentation rate Increased antibody level in blood Cone-shaped epiphysis Hallux valgus Leukocytosis Hyperglycemia Stridor Psoriasiform dermatitis Lipodystrophy Azoospermia Type I diabetes mellitus Aspiration Recurrent fractures Hyperpigmentation of the skin Telangiectasia Bronchiectasis Primary amenorrhea Hypertriglyceridemia Blue sclerae Abnormality of dental morphology Epistaxis Cardiomegaly Bilateral sensorineural hearing impairment Mitral valve prolapse Decreased testicular size Wide intermamillary distance Peripheral edema Involuntary movements Deeply set eye Abnormality of the lymphatic system Pain Acute megakaryocytic leukemia Left-to-right shunt Round ear Brushfield spots Transient myeloproliferative syndrome Crackles Atlantoaxial instability Neutrophilia Abnormality of the fontanelles or cranial sutures Shallow acetabular fossae Duodenal stenosis Myeloproliferative disorder Immunodeficiency Short middle phalanx of the 5th finger Complete atrioventricular canal defect Pulmonary edema Hypoxemia Acute monocytic leukemia Senile plaques Double outlet right ventricle Thickened nuchal skin fold Acute lymphoblastic leukemia Thrombocytosis Protruding tongue Neurofibrillary tangles Impaired pain sensation Talipes equinovarus Cerebral atrophy Abnormality of blood and blood-forming tissues Spastic gait Abnormality of the sternum Femoral bowing Neurodevelopmental delay Open bite Bowing of the legs Flat occiput Heart murmur Chronic otitis media Prominent supraorbital ridges Widely spaced teeth Recurrent bacterial infections Low anterior hairline Hallucinations Inguinal hernia Limb ataxia Amblyopia Bowing of the long bones Psychosis Pancytopenia Optic disc pallor Dental malocclusion Highly arched eyebrow Retinal degeneration Corneal opacity Respiratory tract infection Kyphoscoliosis Prominent forehead Abnormality of immune system physiology Prematurely aged appearance Limb dystonia Hypopituitarism Progressive visual field defects Enlarged pituitary gland Slow decrease in visual acuity Bitemporal hemianopia Sudden loss of visual acuity Central adrenal insufficiency Central diabetes insipidus Cerebral ischemia Pituitary hypothyroidism Excessive daytime somnolence Prolactin excess Papilledema Orthostatic hypotension Abnormal visual field test Polyphagia Impotence Diabetes insipidus Increased susceptibility to fractures Hypogonadotrophic hypogonadism Myocardial infarction Coma Nausea Vertigo Lethargy Hypoglycemia Arrhythmia Fatigue Craniopharyngioma Intracranial cystic lesion Transposition of the great arteries Postural instability Broad palm Atrioventricular canal defect Decreased fertility Hydroureter Alzheimer disease Cholelithiasis Breast carcinoma Renal hypoplasia/aplasia Sandal gap Bilateral single transverse palmar creases Aganglionic megacolon Open mouth Neutropenia Neoplasm of the anterior pituitary Single transverse palmar crease Postaxial polydactyly Short palm Anal atresia Leukemia Hydronephrosis Polydactyly Thrombocytopenia Abnormality of cardiovascular system morphology Short nose Abnormality of the frontal bone Abnormality of the nasal bone Abnormal hypothalamus morphology Thickened calvaria Aseptic necrosis Autism Frequent temper tantrums Leukodystrophy Diplopia Sudden cardiac death Tetraplegia Hyperlordosis Facial palsy EEG abnormality Respiratory failure Hyperhidrosis Hyporeflexia Respiratory insufficiency Oral motor hypotonia Suicidal ideation Abnormal autonomic nervous system physiology Neuronal loss in basal ganglia Abnormal involuntary eye movements Mania Paranoia Testicular atrophy Dilated fourth ventricle Chronic bronchitis Head tremor Upper limb undergrowth Cerebellar vermis atrophy Hypokinesia Akinesia Obsessive-compulsive behavior Muscle stiffness Leukoencephalopathy Rheumatoid arthritis Pseudobulbar signs Osteoporosis Pes cavus Pectus excavatum Microphthalmia Hypertonia Peripheral neuropathy Cryptorchidism Diffuse demyelination of the cerebral white matter Microcoria Hyperpigmented nevi Recurrent singultus Progressive macrocephaly Large face Dysphonia Hypersomnia Aqueductal stenosis Bulbar signs Hypothermia Megalencephaly Increased CSF protein Drowsiness Atrophy/Degeneration affecting the brainstem Progressive spasticity Dysphasia Emotional lability Oral-pharyngeal dysphagia Encephalitis Personality changes Slurred speech Patellar dislocation Cranial hyperostosis Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Vacuolated lymphocytes Abnormality of joint mobility Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Delusions Abnormality of the ilium Antineutrophil antibody positivity Incoordination Dystonia Hyperkinesis Clumsiness Broad-based gait Generalized-onset seizure Neuronal loss in central nervous system Brain atrophy Abnormal cerebellum morphology Falls Abnormality of movement Irritability Rigidity Hyperactivity Myoclonus Premature rupture of membranes Abnormality of dental structure Everted upper lip vermilion Maternal diabetes Short columella Long palpebral fissure Deep philtrum Premature birth Round face Blepharophimosis Polyhydramnios Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines


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