Hydrocephalus, and Osteoporosis

Diseases related with Hydrocephalus and Osteoporosis

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

Top matches:

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

Medium match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3|marfan syndrome, type ii, formerly|mfs1|aat3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARFAN SYNDROME TYPE 1

Other less relevant matches:

Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011).

HAJDU-CHENEY SYNDROME; HJCYS Is also known as acroosteolysis with osteoporosis and changes in skull and mandible|sfpks|cheney syndrome|arthrodentoosteodysplasia|serpentine fibula-polycystic kidney syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about HAJDU-CHENEY SYNDROME; HJCYS

Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 2

Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

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

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Medium match ACROOSTEOLYSIS

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

Top 5 symptoms//phenotypes associated to Hydrocephalus and Osteoporosis

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Osteopenia Common - Between 50% and 80% cases
Recurrent fractures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Downslanted palpebral fissures

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Osteolysis

Common Symptoms - More than 50% cases

Kyphosis

Uncommon Symptoms - Between 30% and 50% cases

Hernia Hepatomegaly Joint laxity Anteverted nares Narrow mouth Inguinal hernia Splenomegaly Malar flattening Frontal bossing Abnormality of the skeletal system Thick eyebrow Low-set ears Synophrys Skeletal dysplasia Bone pain Pain Brachycephaly Short neck Growth delay Brachydactyly Macrocephaly Abnormality of the dentition Wormian bones Myopia Patent ductus arteriosus Blue sclerae Cleft palate Pectus carinatum Short distal phalanx of finger Absent frontal sinuses Midface retrusion Umbilical hernia Bowing of the long bones Joint hypermobility Seizures Cataract Dolichocephaly Prominent occiput Osteolytic defects of the phalanges of the hand Abnormal cardiac septum morphology Cryptorchidism Arnold-Chiari malformation Intestinal malrotation Long philtrum Ataxia Thickened skin Downturned corners of mouth Delayed puberty Recurrent respiratory infections Ventricular septal defect Wide nasal bridge Peripheral neuropathy Dry skin Flexion contracture Basilar impression Hypospadias Platybasia Biconcave vertebral bodies Generalized osteoporosis Metatarsus adductus Dental malocclusion Full cheeks Wide nose Genu valgum Telecanthus Abnormality of the fingernails Coarse facial features Broad forehead Proptosis Hypoplasia of the maxilla Narrow chest Protruding ear Deeply set eye Prominent forehead Short toe Anemia Increased bone mineral density

Rare Symptoms - Less than 30% cases

Epicanthus Renal insufficiency Hepatosplenomegaly Microcephaly Aortic valve stenosis Skin ulcer Recurrent infections Low anterior hairline Open bite Coarse hair Abnormality of the voice Thin vermilion border Syringomyelia Multiple renal cysts Patellar dislocation Hematuria Periodontitis Decreased skull ossification Mitral stenosis Delayed skeletal maturation Rough bone trabeculation Striae distensae Iris coloboma Conductive hearing impairment Kyphoscoliosis Nystagmus Hypermetropia Prominent nasal bridge Proteinuria Restrictive ventilatory defect Arrhythmia Microphthalmia Intellectual disability, severe Tremor Hypertension Postnatal growth retardation Strabismus Narrow palate Joint hyperflexibility Hip dislocation Basal ganglia calcification Basilar invagination Vertebral compression fractures Delayed cranial suture closure Cutis laxa Mandibular prognathia Agenesis of corpus callosum Headache Arthralgia Intrauterine growth retardation Partial absence of toe Hypoplastic 5th lumbar vertebrae Generalized hirsutism Generalized hypotonia Pes cavus Increased susceptibility to fractures Abnormality of the thorax Abnormal vertebral morphology Thoracic kyphosis Spondylolisthesis Small face Delayed eruption of primary teeth Abnormality of the face Neurodegeneration Abnormal pyramidal sign High palate Talipes equinovarus Aggressive behavior Pectus excavatum Congenital cataract Pes planus Bicuspid aortic valve Gait disturbance Congestive heart failure Mitral valve prolapse Hypertonia Arachnodactyly Carious teeth Craniosynostosis Joint dislocation Microretrognathia Patent foramen ovale Elbow flexion contracture Accelerated skeletal maturation Broad face Meningitis Sandal gap Lymphedema Hyperextensible skin Progressive gait ataxia Rhizomelia Respiratory distress Poor coordination Insulin-resistant diabetes mellitus Radioulnar synostosis Congenital glaucoma Mixed hearing impairment Upper limb undergrowth Ankle clonus Aortic root aneurysm Narrow nasal bridge Sparse body hair Thoracic hypoplasia Irregular vertebral endplates Congenital hypothyroidism Hip contracture Bilateral talipes equinovarus Restlessness Dystrophic fingernails Spondyloepiphyseal dysplasia Amblyopia Abnormal lung morphology Left ventricular hypertrophy Absent axillary hair Microtia Premature loss of permanent teeth Fever Abnormal glucose tolerance Motor delay Posterior polar cataract Motor tics Ectopic calcification Torus palatinus Depressed nasal bridge Posterior scalloping of vertebral bodies Absent facial hair Muscular hypotonia Increased size of the mandible Calcification of the auricular cartilage Narrow iliac wings Recurrent ear infections Superiorly displaced ears Webbed neck Mitral regurgitation Tics Low posterior hairline Cardiomegaly Congenital diaphragmatic hernia Flank pain Microdontia Abnormal heart morphology Cerebral cortical atrophy Bone cyst Short metacarpal Flat face Talipes Abnormality of the foot Glaucoma Pulmonic stenosis Esotropia Avascular necrosis of the capital femoral epiphysis Abnormally large globe Intention tremor Portal hypertension Cholelithiasis Aortic valve calcification Hypoalbuminemia Abnormal saccadic eye movements Leukopenia Oculomotor apraxia Lymphopenia Hydrops fetalis Decreased body weight Progressive neurologic deterioration Epistaxis Abnormal thrombosis Pulmonary arterial hypertension Pancytopenia Cyanosis Syncope Abnormal bleeding Progressive cerebellar ataxia Generalized myoclonic seizures Abdominal distention Ascites Cirrhosis Lymphadenopathy Spontaneous hematomas Generalized osteosclerosis Malabsorption Bulbar palsy Abnormality of the spleen Abnormal myocardium morphology Multiple myeloma Supranuclear gaze palsy Hypercoagulability Slow saccadic eye movements Hepatocellular carcinoma Aseptic necrosis Abnormal heart valve morphology Restrictive deficit on pulmonary function testing Exertional dyspnea Abnormality of the sternum Clubbing Lower limb hyperreflexia Abnormal retinal morphology Pericardial effusion Interstitial pulmonary abnormality Petechiae Opisthotonus Increased antibody level in blood Protein-losing enteropathy Astrocytosis Pulmonary fibrosis Menorrhagia Abnormality of eye movement Ophthalmoplegia Overlapping fingers Prominent antitragus Vomiting Edema Polycystic kidney dysplasia Glomerulonephritis Dysphagia Fatigue Respiratory arrest Bilateral elbow dislocations Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Spatulate thumbs Enlarged metaphyses Dystonia Accessory carpal bones Hypertropia Shoulder dislocation Multiple joint dislocation Talipes equinovalgus Knee dislocation Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Deep palmar crease 11 pairs of ribs Diarrhea Thrombocytopenia Generalized tonic-clonic seizures Cardiac valve calcification Corneal opacity Pallor Mental deterioration Mitral valve calcification Orthopnea Erlenmeyer flask deformity of the femurs Decreased beta-glucocerebrosidase protein and activity Hematological neoplasm Anonychia Horizontal supranuclear gaze palsy Rigidity Abnormality of ion homeostasis Depressivity Abnormality of the acoustic reflex Difficulty walking Sleep myoclonus Dyspnea Abnormality of the kidney Respiratory tract infection Abdominal pain Myoclonus Paresthesia Dementia Encephalopathy Truncal obesity Severe photosensitivity Bilateral cryptorchidism Ectopia lentis Ascending tubular aorta aneurysm Dermal translucency High anterior hairline Aortic dissection Dilatation of the cerebral artery Disproportionate tall stature Myopathic facies Aortic aneurysm Joint contracture of the hand Arterial tortuosity Exotropia Dental crowding Chest pain Bifid uvula Postaxial polydactyly Camptodactyly Retrognathia Polydactyly Dilatation Thoracic aortic aneurysm Dural ectasia Atrial septal defect Renal cyst Vocal cord paralysis Radial bowing Premature loss of teeth Proportionate short stature Dislocated radial head Vertebral fusion Pathologic fracture Narrow palpebral fissure Long eyelashes Hirsutism Protrusio acetabuli Paralysis Generalized arterial tortuosity Bicuspid pulmonary valve Spontaneous pneumothorax Descending thoracic aorta aneurysm Pulmonary artery aneurysm Absent distal phalanges Ascending aortic dissection Mild myopia Syndactyly Abnormal pelvis bone ossification Short nail Prominent superficial veins Postural instability Delayed eruption of teeth Hyperlordosis Apnea High forehead Cognitive impairment Abnormal glycosylation Narrow nasal ridge Colpocephaly Premature skin wrinkling Prominent nose Redundant skin Growth abnormality Congenital hip dislocation Large fontanelles Hypotelorism Triangular face Bulbous nose Gastroesophageal reflux Ventriculomegaly Hypodontia Growth hormone deficiency Persistent open anterior fontanelle Abnormality of the clavicle Osteolytic defects of the distal phalanges of the hand Spondylolysis Snoring Delayed eruption of permanent teeth Persistence of primary teeth Abnormal pattern of respiration Low back pain Ridged nail Osteopetrosis Abnormality of the vertebral column Abnormality of the skin Agenesis of permanent teeth Osteomyelitis Abnormality of dental morphology Back pain Abnormality of pelvic girdle bone morphology Sleep apnea Abnormality of the nail Abnormality of epiphysis morphology Small nail Large earlobe Large sella turcica Melanocytic nevus Skeletal muscle atrophy Diabetes mellitus Hypogonadism Babinski sign Areflexia Intellectual disability, mild Behavioral abnormality Myopathy Hypoplasia of the corpus callosum Ptosis Autism Neoplasm Abnormality of the mandible Hypoplasia of the zygomatic bone Abnormality of the skull Abnormality of cardiovascular system morphology Cerebellar calcifications Subcortical white matter calcifications Patchy demyelination of subcortical white matter Abnormal peripheral myelination Gait ataxia Hypothyroidism Square pelvis bone Gynecomastia Self-injurious behavior Schizophrenia Abnormal palate morphology Plagiocephaly Spastic paraparesis Knee flexion contracture Paraparesis Hypergonadotropic hypogonadism Clonus Abnormal form of the vertebral bodies Macrotia Sparse scalp hair Thick lower lip vermilion Bradykinesia Cerebral calcification Hip dysplasia Otitis media Nevus Distal amyotrophy Developmental regression Ivory epiphyses of the phalanges of the hand Peripheral dysmyelination Cervical instability Optic atrophy Microcornea Polyneuropathy Abnormality of skin pigmentation Small for gestational age Sparse hair Abnormality of the pinna Micropenis Severe short stature Cerebral atrophy Spasticity Pigmentary retinopathy Muscle weakness Sensorineural hearing impairment Cheyne-Stokes respiration Elongated sella turcica Tall lumbar vertebral bodies Crowded carpal bones Serpentine fibula Bilateral vocal cord paralysis Foot acroosteolysis Limitation of joint mobility Cutaneous photosensitivity Slender nose Progeroid facial appearance Increased cellular sensitivity to UV light Normal pressure hydrocephalus Loss of facial adipose tissue Decreased lacrimation Abnormal auditory evoked potentials Hypoplasia of teeth Dry hair Hypoplastic pelvis Hypoplastic iliac wing Atypical scarring of skin Abnormality of the hair Severe failure to thrive Hypoplasia of the iris Abnormality of visual evoked potentials Thickened calvaria Reduced subcutaneous adipose tissue Anhidrosis Decreased nerve conduction velocity Dermal atrophy Opacification of the corneal stroma Osteolytic defects of the phalanges of the toes


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