Hydrocephalus, and Hyperglycemia

Diseases related with Hydrocephalus and Hyperglycemia

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

Top matches:

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME Is also known as polysyndactyly with peculiar skull shape|gcps

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

Medium 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

Medium match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Other less relevant matches:

Medium match OXOGLUTARIC ACIDURIA

Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.

OXOGLUTARIC ACIDURIA Is also known as 2-ketoglutarate dehydrogenase deficiency|alpha-kgd deficiency|oxoglutaric aciduria|alpha-ketoglutarate dehydrogenase deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OXOGLUTARIC ACIDURIA

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

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

Tenorio syndrome is characterized by overgrowth, macrocephaly, and intellectual disability (ID). Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (OMIM ) (summary by Tenorio et al., 2014).

TENORIO SYNDROME; TNORS Is also known as overgrowth, macrocephaly, and intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about TENORIO SYNDROME; TNORS

Low match MIRAGE SYNDROME

MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

MIRAGE SYNDROME Is also known as myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|myelodysplasia, infection, restriction of gr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about MIRAGE SYNDROME

SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Hydrocephalus and Hyperglycemia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypoglycemia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Ventriculomegaly Macrocephaly Apnea Growth delay Overgrowth Anteverted nares Hypertelorism Frontal bossing Intellectual disability, mild Anemia Diarrhea Delayed puberty Hyperpigmentation of the skin Cryptorchidism Gastroesophageal reflux Delayed speech and language development Downslanted palpebral fissures Hernia Absent speech Hearing impairment Hypothyroidism Inguinal hernia Chronic diarrhea Low-set ears Hypogonadism Scoliosis Abnormal heart morphology Ptosis Feeding difficulties

Rare Symptoms - Less than 30% cases

Growth hormone deficiency Full cheeks Macroglossia Sepsis Pneumonia Hip dysplasia Low-set, posteriorly rotated ears Pectus carinatum Apraxia Ganglioneuroblastoma Decreased body weight Severe short stature Posteriorly rotated ears Hyperkeratosis Decreased testicular size Delayed skeletal maturation Postnatal growth retardation Amenorrhea Arrhythmia Abnormal facial shape Strabismus High palate Neoplasm Depressed nasal bridge Motor delay Myopia Clumsiness Talipes equinovarus Open mouth Long philtrum Renal insufficiency Recurrent infections Anxiety Mitral valve prolapse Aspiration pneumonia Cerebral cortical atrophy Osteopenia Spasticity Ataxia Sleep apnea Postprandial hyperglycemia Arthrogryposis multiplex congenita Hypergonadotropic hypogonadism Hypertrichosis Wide nose Epidermal acanthosis Sleep disturbance Patent ductus arteriosus Proptosis Muscular hypotonia Hip dislocation Pyloric stenosis Delayed cranial suture closure Edema Rocker bottom foot Plagiocephaly Postural instability Confusion Camptodactyly Arnold-Chiari malformation Telecanthus Large forehead High forehead Severe postnatal growth retardation Hypospadias Wide nasal bridge Cognitive impairment Laryngomalacia Large for gestational age Sensorineural hearing impairment Failure to thrive Flexion contracture Hepatomegaly Epicanthus Ventricular septal defect Atrial septal defect Congenital lactic acidosis Concentric hypertrophic cardiomyopathy Abnormality of the testis Redundant neck skin Abnormality of Krebs cycle metabolism Labial hypoplasia Abnormal urine alpha-ketoglutarate concentration Abnormality of movement Broad philtrum Abnormal salivary gland morphology Deeply set eye Asymmetric septal hypertrophy Increased serum lactate Metabolic acidosis Abnormal mitral valve morphology Lactic acidosis Deep palmar crease Melena Lack of skin elasticity Congenital muscular torticollis Large earlobe Shyness Thick upper lip vermilion Ulnar deviation of the wrist Achilles tendon contracture Duodenal ulcer Increased head circumference Facial hypotonia Muscular hypotonia of the trunk Tented upper lip vermilion Abnormal pulmonary valve morphology Hypopnea Torticollis Congenital hip dislocation Verrucae Central apnea Narrow forehead Poor speech Hypertonia Acidosis Triangular mouth Abnormality of earlobe Limited elbow movement Fetal distress Capillary malformation Cardiomyocyte hypertrophy Bronchomalacia Papilloma Bladder carcinoma Large face Loose anagen hair Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Frontal hirsutism Thin nail Deep-set nails Deep plantar creases Hematemesis Schwannoma Broad femoral neck Vestibular Schwannoma Transitional cell carcinoma of the bladder Skeletal muscle atrophy Fasting hypoglycemia Hypoplasia of teeth Increased corneal curvature Concave nail Systolic heart murmur Thickened Achilles tendon Pneumothorax Congenital neuroblastoma Macrocephaly at birth Lymphangiectasis Hyperextensibility of the finger joints Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Bladder neoplasm Rhabdomyosarcoma Enlarged cerebellum Body odor Coma Microcephaly Paraplegia Petechiae Hyperkalemia Adrenal insufficiency Hyponatremia Myelodysplasia Intracranial hemorrhage Abnormal intestine morphology Leukopenia Recurrent bacterial infections Meningitis Lymphopenia Recurrent urinary tract infections Thrombocytopenia Adrenal hypoplasia Intrauterine growth retardation Hypoinsulinemia Cavum septum pellucidum Recurrent aphthous stomatitis Stomatitis Hemihypertrophy Raynaud phenomenon Keratoconjunctivitis sicca Keratitis Cerebral palsy Conjunctivitis Syncope Shawl scrotum Overlapping fingers Mandibular prognathia Steatorrhea Abnormality of globe location Neonatal asphyxia Abnormal CNS myelination Hypochromic anemia Subcortical cerebral atrophy Abnormality of the renal tubule Hypochromic microcytic anemia Cholestatic liver disease Recurrent hypoglycemia Breech presentation Diastasis recti Shallow orbits Portal hypertension Achalasia Adducted thumb Large fontanelles Cholestasis Hypotelorism Hepatitis Short foot Prominent nasal bridge Narrow mouth Immunodeficiency Hypoplastic spleen Radial club hand Esophageal stricture Microphallus Thick eyebrow Gait disturbance Hypoplasia of the corpus callosum Optic atrophy Hypotension Progeroid facial appearance Nausea Vertigo Nausea and vomiting Lethargy Constipation Obesity Headache Behavioral abnormality Vomiting Fatigue Pontocerebellar atrophy Type II diabetes mellitus Inverted nipples Impulsivity Hyperbilirubinemia Paraparesis Bradycardia Postnatal microcephaly Delayed myelination Inability to walk Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Protruding ear Thin upper lip vermilion Upslanted palpebral fissure Cerebral calcification Myocardial infarction Abnormality of the frontal bone Central diabetes insipidus Abnormality of the nasal bone Abnormal hypothalamus morphology Neoplasm of the anterior pituitary Intracranial cystic lesion Abnormal visual field test Craniopharyngioma Progressive visual field defects Enlarged pituitary gland Slow decrease in visual acuity Bitemporal hemianopia Sudden loss of visual acuity Central adrenal insufficiency Cerebral ischemia Increased body weight Pituitary hypothyroidism Excessive daytime somnolence Prolactin excess Papilledema Proportionate short stature Hypopituitarism Orthostatic hypotension Polyphagia Impotence Diabetes insipidus Increased susceptibility to fractures Increased intracranial pressure Hypogonadotrophic hypogonadism Woolly hair Wide anterior fontanel Barrel-shaped chest Epistaxis Type I diabetes mellitus Elbow flexion contracture Aspiration Gynecomastia Gingival overgrowth Telangiectasia Bronchiectasis Primary amenorrhea Hypertriglyceridemia Blue sclerae Cardiomegaly Azoospermia Bilateral sensorineural hearing impairment Wide intermamillary distance Recurrent fractures Polyneuropathy Flat face Cleft upper lip Ichthyosis Lymphadenopathy Abnormality of the foot Malabsorption Hypotrichosis Osteolysis Lipodystrophy Abnormal cardiac septum morphology Enlarged kidney Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Skin nodule Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Varicose veins Abnormal eyebrow morphology Exocrine pancreatic insufficiency Psoriasiform dermatitis Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Leukocytosis Stridor Retinopathy Abnormality of the kidney Broad finger Broad thumb Abnormality of digit Partial agenesis of the corpus callosum Broad hallux Preaxial hand polydactyly Trigonocephaly Hand polydactyly Preaxial polydactyly Cutaneous syndactyly Accelerated skeletal maturation Joint contracture of the hand Congenital diaphragmatic hernia Scaphocephaly Postaxial hand polydactyly Postaxial polydactyly Hirsutism Toe syndactyly Finger syndactyly Craniosynostosis Umbilical hernia Polydactyly Prominent forehead Agenesis of corpus callosum Syndactyly Cutaneous finger syndactyly Foot polydactyly Conductive hearing impairment 1-3 toe syndactyly Hepatosplenomegaly Pes planus Dyspnea Micropenis Diabetes mellitus Alopecia Clinodactyly Splenomegaly Fever Brachydactyly Hyperreflexia Duplication of the distal phalanx of hand Postaxial foot polydactyly 3-4 finger syndactyly Abnormality of calvarial morphology Camptodactyly of toe Abnormality of muscle fibers Metopic synostosis Cutaneous syndactyly of toes Medulloblastoma Preaxial foot polydactyly Broad hallux phalanx High anterior hairline Abnormality of finger Pancreatic hypoplasia Hyperplasia of the maxilla Megalencephaly Pointed chin Relative macrocephaly Hemangioma Infantile muscular hypotonia Abnormal dermatoglyphics Cutis laxa Acanthosis nigricans Abnormality of the fingernails Short chin Abnormality of dental enamel Narrow palate Hoarse voice Hyperextensible skin Abnormality of the hair Cafe-au-lait spot Hydrops fetalis Lymphedema Long eyelashes Hypoplasia of dental enamel Atrial fibrillation Thick lower lip vermilion Eczema Abnormality of the skin Webbed neck Poor suck Redundant skin Nevus Ulnar deviation of finger Fragile nails Thickened nuchal skin fold Microscopic hematuria Obstructive sleep apnea Soft skin Neonatal hypoglycemia Arnold-Chiari type I malformation Syringomyelia Central hypotonia Tracheomalacia Generalized hyperpigmentation Rhabdomyolysis Failure to thrive in infancy Neuroblastoma Curly hair Keratoconus Reduced subcutaneous adipose tissue Neurodevelopmental delay Tricuspid regurgitation Hypoplastic toenails Bilateral cryptorchidism Heart murmur Pleural effusion Aortic aneurysm Premature birth Tetraplegia Corneal arcus Nystagmus Short nose Abnormality of the dentition Myopathy Cardiomyopathy Short neck Respiratory insufficiency Abnormality of the skeletal system Dysphagia Dysarthria Hypertension Micrognathia Seborrheic keratosis Abnormality of cardiovascular system morphology Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Cerebral atrophy Pectus excavatum Ascites Irritability High, narrow palate Hematuria Thick vermilion border Tachycardia Joint hypermobility Astigmatism Joint hyperflexibility Pulmonic stenosis Hypermetropia Sparse hair Wide mouth Feeding difficulties in infancy Pes cavus Intellectual disability, moderate Joint laxity Hypertrophic cardiomyopathy Abnormality of the nervous system Carcinoma Coarse facial features Kyphoscoliosis Polyhydramnios Respiratory failure Hyperhidrosis Osteoporosis Increased urinary sedoheptulose


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