Hydrocephalus, and Hypothyroidism

Diseases related with Hydrocephalus and Hypothyroidism

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Medium 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

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

Other less relevant matches:

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

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

Acrodysostosis-1 is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). Genetic Heterogeneity of AcrodysostosisSee also ACRDYS2 (OMIM ), caused by mutation in the PDE4D gene (OMIM ) on chromosome 5q12.

ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 Is also known as adohr

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

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

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Top 5 symptoms//phenotypes associated to Hydrocephalus and Hypothyroidism

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Macrocephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Anteverted nares Short stature Low-set ears Ptosis Hypertelorism Cryptorchidism Nevus Cerebral calcification Epicanthus Hypogonadism Vomiting Neoplasm Growth delay Kyphosis Generalized hypotonia Abnormality of the skeletal system Attention deficit hyperactivity disorder Abnormal facial shape Hypoplasia of the maxilla Arrhythmia Agenesis of corpus callosum High palate Behavioral abnormality Hypoglycemia Feeding difficulties Micrognathia Strabismus Ataxia Sleep disturbance Postnatal growth retardation Intellectual disability, mild Brachydactyly Downslanted palpebral fissures Brachycephaly Abnormality of cardiovascular system morphology Microphthalmia Sleep apnea Failure to thrive Hypertension Increased intracranial pressure Frontal bossing

Rare Symptoms - Less than 30% cases

Heterotopia Macrotia Developmental regression Diabetes mellitus Intellectual disability, moderate Hyperactivity Glaucoma Respiratory failure Autism Melanocytic nevus Genu valgum Otitis media Cafe-au-lait spot Stroke Cough Abnormality of the cerebral white matter Retinal detachment Osteopenia Broad nasal tip Hip dysplasia Gliosis Microcephaly Midface retrusion Motor delay Thick lower lip vermilion Sparse scalp hair Accelerated skeletal maturation Dandy-Walker malformation Spinal canal stenosis Growth hormone deficiency Muscular hypotonia Thoracic kyphosis Abnormal palate morphology Hypoplasia of the corpus callosum Cognitive impairment Hypotrichosis Precocious puberty Craniosynostosis Constrictive median neuropathy Thickened skin Conductive hearing impairment Gait disturbance Atrial septal defect Short neck Cataract Spasticity Delayed speech and language development Nephroblastoma Short nose Dilatation Respiratory distress Abnormal pyramidal sign Obesity Abnormal heart morphology Pectus excavatum Amenorrhea Hypotension Polydactyly Nausea High forehead Deeply set eye Nausea and vomiting Flexion contracture Broad forehead Constipation Headache Diabetes insipidus Optic atrophy Apnea Protruding ear Oral cleft Joint hypermobility Postaxial polydactyly Arnold-Chiari malformation Paraparesis Poor coordination Megalencephaly Open mouth Progressive macrocephaly Postaxial hand polydactyly Patent ductus arteriosus Upslanted palpebral fissure Nystagmus Arnold-Chiari type I malformation Long philtrum Pain Dolichocephaly Mixed hearing impairment Tetraplegia Umbilical hernia Hernia Intellectual disability, severe Clonus Edema Ventriculomegaly Ventricular septal defect Intrauterine growth retardation Wide nasal bridge Cardiomyopathy Self-injurious behavior Short columella Widow's peak Adrenal insufficiency Multiple lipomas Radial deviation of finger Calvarial skull defect Anophthalmia Partial agenesis of the corpus callosum Preaxial polydactyly Lymphedema Abnormality of the genital system Occipital encephalocele Abnormality of the face Coronal craniosynostosis Preauricular skin tag Facial cleft Median cleft lip Scrotal hypoplasia Long eyelashes Lipoma Easy fatigability Meningocele Joint contracture of the hand Vascular ring Encephalocele Nevus flammeus Dilation of lateral ventricles Atrial flutter Abnormality of the upper limb Hemihypertrophy Arteriovenous malformation Abnormality of the lower limb Large earlobe Varicose veins Meningioma Capillary hemangioma Severe failure to thrive Severe postnatal growth retardation Syringomyelia Arterial stenosis Telangiectasia of the skin Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Abnormality of digit Cortical dysplasia Large for gestational age Cutis marmorata Redundant skin Reduced bone mineral density Ischemic stroke Hemangioma Cutis laxa Cutaneous syndactyly Cavum septum pellucidum Skin erosion Fine hair Clinodactyly Oligohydramnios Tetralogy of Fallot Decreased testicular size Underdeveloped nasal alae Postural instability Wide nose Talipes Coloboma Camptodactyly Cleft lip Telecanthus Micropenis Alopecia Talipes equinovarus Right aortic arch Cleft palate Blue nevus Cutis marmorata telangiectatica congenita Conical tooth Displacement of the external urethral meatus Leukocoria Hemimegalencephaly Facial hemangioma Capillary malformation Short lower limbs Subcutaneous hemorrhage Perisylvian polymicrogyria Asymmetric growth Preaxial foot polydactyly Abnormal location of ears Bifid nasal tip Cyanosis Carious teeth Ichthyosis Thin vermilion border High, narrow palate Webbed neck Wide intermamillary distance Eczema Pectus carinatum Coarctation of aorta Ventricular hypertrophy Low posterior hairline Mitral regurgitation Thin skin Hyperpigmentation of the skin Pulmonic stenosis Sparse hair Hypocalcemia Calcification of the auricular cartilage Basilar impression Motor tics Torus palatinus Posterior scalloping of vertebral bodies Absent facial hair Increased size of the mandible Superiorly displaced ears Low-set, posteriorly rotated ears Delayed skeletal maturation Broad fingertip Posteriorly rotated ears Prominent forehead Gastroesophageal reflux Retrognathia Hypertrophic cardiomyopathy Hoarse voice Abnormality of the fingernails Posterior polar cataract Redundant neck skin Loose anagen hair Fragile nails Hypomagnesemia Abnormally large globe Enlarged cisterna magna Abnormality of the testis Abnormality of refraction Abnormality of the elbow Slow-growing hair Peripheral pulmonary artery stenosis Thickened helices Abnormality of the pulmonary artery Dermal translucency Abnormality of the intervertebral disk Hiatus hernia Broad neck Infantile muscular hypotonia Failure to thrive in infancy Optic nerve hypoplasia Coarse hair Relative macrocephaly Deep philtrum Nasal speech Patent foramen ovale Overfolded helix Atopic dermatitis Hypoplastic toenails Right bundle branch block Aplasia/Hypoplasia of the eyebrow Abnormality of coagulation Neurodevelopmental delay Freckling Natal tooth Absent axillary hair Abnormal glucose tolerance Alopecia totalis Babinski sign Skeletal muscle atrophy Myopathy Hypertonia Malar flattening Areflexia Superior pectus carinatum Pes cavus Anemia Osteoporosis Gait ataxia Narrow mouth Aggressive behavior Purpura Prominent nasal bridge Peripheral neuropathy Anterior basal encephalocele Synophrys Absent tibia Broad philtrum Agenesis of cerebellar vermis Bifid nose Broad columella Parietal foramina Median cleft palate Hypoplastic frontal sinuses Midline facial cleft Widely-spaced maxillary central incisors Scleral staphyloma Morning glory anomaly Cranium bifidum occultum Lipoma of corpus callosum Frontal cutaneous lipoma Pectoral muscle hypoplasia/aplasia Congenital cataract Narrow chest Narrow iliac wings Progressive gait ataxia Congenital hypothyroidism Hip contracture Striae distensae Restlessness Insulin-resistant diabetes mellitus Irregular vertebral endplates Broad face Basal ganglia calcification Dystrophic fingernails Tics Generalized osteoporosis Bone cyst Recurrent ear infections Ectopic calcification Sparse body hair Ankle clonus Distal amyotrophy Hypergonadotropic hypogonadism Short distal phalanx of finger Downturned corners of mouth Neurodegeneration Bradykinesia Abnormal form of the vertebral bodies Gynecomastia Knee flexion contracture Truncal obesity Spastic paraparesis Osteolysis Plagiocephaly Schizophrenia Bilateral cryptorchidism Metatarsus adductus Anonychia Shock Skeletal dysplasia Multicystic kidney dysplasia Hyperventilation Fibroma Chylothorax Gingival fibromatosis Pneumothorax Astrocytoma Brain neoplasm Wolff-Parkinson-White syndrome White hair Renal neoplasm Generalized hypopigmentation Abnormality of the respiratory system Skin tags Renal cell carcinoma Flank pain Hamartoma Infantile spasms Aortic aneurysm Polycystic kidney dysplasia CNS hypomyelination Tachypnea Hypoplasia of dental enamel Subcutaneous nodule Cardiomegaly Generalized-onset seizure Specific learning disability Focal-onset seizure Brain atrophy Adenoma sebaceum Shagreen patch Renal cyst Subungual fibromas Hyperhidrosis Dementia Hyporeflexia Depressivity Respiratory insufficiency Dysphagia Tremor Dysarthria Hyperreflexia Muscle weakness Projection of scalp hair onto lateral cheek Achromatic retinal patches Rhabdomyoma Ependymoma Connective tissue nevi Pulmonary lymphangiomyomatosis Chordoma Cortical tubers Cardiac rhabdomyoma Ungual fibroma Dental enamel pits Hypomelanotic macule Subependymal nodules Optic nerve glioma Angiofibromas Renal angiomyolipoma Premature chromatid separation Chest pain Hypopigmentation of the skin EEG abnormality Ganglioneuroblastoma Hypogonadotrophic hypogonadism Increased body weight Myocardial infarction Type II diabetes mellitus Coma Vertigo Confusion Delayed puberty Lethargy Anxiety Recurrent infections Fatigue Pontocerebellar atrophy Impotence Inverted nipples Impulsivity Laryngomalacia Hyperbilirubinemia Bradycardia Postnatal microcephaly Clumsiness Apraxia Delayed myelination Inability to walk Generalized tonic-clonic seizures Thin upper lip vermilion Absent speech Increased susceptibility to fractures Polyphagia Skin rash Craniopharyngioma Autistic behavior Irritability Abnormality of the kidney Carcinoma Dyspnea Renal insufficiency Congestive heart failure Abnormality of the frontal bone Abnormality of the nasal bone Abnormal hypothalamus morphology Neoplasm of the anterior pituitary Intracranial cystic lesion Abnormal visual field test Progressive visual field defects Orthostatic hypotension 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 Proportionate short stature Hypopituitarism Weight loss Facial palsy Telangiectasia Severe short stature Cone-shaped epiphysis Short metatarsal Disproportionate short-limb short stature Short phalanx of finger Short metacarpal Dental malocclusion Hypodontia Delayed eruption of teeth Small hand Short palm Small for gestational age Mandibular prognathia Hypospadias Dextrocardia Anterior wedging of L2 Anterior wedging of L1 Hypoplastic acetabulae Dermatan sulfate excretion in urine Cervical cord compression Cervical instability Cervical myelopathy Prominent sternum Retinal fold Myelopathy Flared iliac wings Broad ribs Disproportionate short-trunk short stature Mild short stature Short finger Hypoplastic iliac wing Syndactyly Overgrowth Abnormality of the skin Vesicoureteral reflux Ascites Thick vermilion border Polymicrogyria Smooth philtrum Toe syndactyly Finger syndactyly Leukemia Joint laxity Abnormality of the nervous system Neonatal epiphyseal stippling Broad palm Mild postnatal growth retardation Narrow vertebral interpedicular distance Calvarial hyperostosis Thyroid hypoplasia Hypoplastic vertebral bodies Long hallux Menstrual irregularities Elevated circulating parathyroid hormone level Fair hair Blue irides Cone-shaped epiphyses of the phalanges of the hand Epiphyseal stippling Dislocated radial head Ovoid vertebral bodies Dysostosis multiplex Hyperlordosis Emotional lability Large face Hypersomnia Aqueductal stenosis Bulbar signs Hypothermia Increased CSF protein Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Progressive spasticity Bowel incontinence Dysphasia Oral-pharyngeal dysphagia Recurrent singultus Encephalitis Dysphonia Leukoencephalopathy Abnormal autonomic nervous system physiology Muscle stiffness Leukodystrophy Diplopia Peripheral demyelination Chorea Sudden cardiac death Dysmetria Abnormality of eye movement Neurological speech impairment Pseudobulbar signs Hyperpigmented nevi Obstructive sleep apnea Tetraparesis Hypoplasia of the odontoid process Aseptic necrosis Abnormal heart valve morphology Metaphyseal irregularity Metaphyseal widening Epiphyseal dysplasia Recurrent upper respiratory tract infections Spastic tetraparesis Opacification of the corneal stroma Aortic valve stenosis Decreased body weight Split hand Progressive neurologic deterioration Lumbar hyperlordosis Microcoria Spastic tetraplegia Waddling gait Macroglossia Hirsutism Corneal opacity Retinopathy Joint stiffness Hepatosplenomegaly Coarse facial features Inguinal hernia Splenomegaly Hepatomegaly Diffuse demyelination of the cerebral white matter Abnormality of the nasal bridge


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