Hydrocephalus, and Osteopenia

Diseases related with Hydrocephalus and Osteopenia

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

Top matches:

Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

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

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Other less relevant matches:

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

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

Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOCRANIOSTENOSIS

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

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

Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Osteopenia

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

High palate Macrocephaly Hypertelorism Recurrent fractures Generalized hypotonia Scoliosis Intrauterine growth retardation Coarse facial features Bowing of the long bones Short stature Kyphosis Muscular hypotonia Ventriculomegaly Frontal bossing Downslanted palpebral fissures Anteverted nares Brachydactyly Ptosis Inguinal hernia Severe short stature Ascites Abnormality of the skeletal system Epicanthus Abnormal facial shape Skeletal dysplasia Microcephaly Micrognathia Craniosynostosis Motor delay Midface retrusion Cognitive impairment Short neck Blue sclerae Wormian bones

Rare Symptoms - Less than 30% cases

Microphthalmia Hypertrichosis Macroglossia Wide nose Thick eyebrow Apnea Telecanthus Gait disturbance Pneumonia Delayed cranial suture closure Abnormal cardiac septum morphology Umbilical hernia Patent ductus arteriosus Vertebral compression fractures Hearing impairment Central hypotonia Sleep apnea Tetraplegia Ataxia Dysostosis multiplex Polymicrogyria Split hand Radial bowing Hydrops fetalis Hypertension EEG abnormality Cleft palate Premature birth Nystagmus Corneal opacity Hepatosplenomegaly Abnormality of the cerebral white matter Hernia Dilatation Splenomegaly Hepatomegaly Hypospadias Pathologic fracture Congestive heart failure Delayed eruption of teeth Postnatal growth retardation Protruding ear Joint hypermobility Joint laxity Gastroesophageal reflux Mandibular prognathia Oligohydramnios Triangular face Osteoporosis Prominent forehead High pitched voice Growth abnormality Redundant skin Thin ribs Turricephaly Agenesis of corpus callosum Proptosis Decreased skull ossification Edema Coronal craniosynostosis Low-set ears Foot acroosteolysis Abnormality of retinal pigmentation Hoarse voice Recurrent otitis media Cheyne-Stokes respiration Bilateral vocal cord paralysis Serpentine fibula Crowded carpal bones Tall lumbar vertebral bodies Elbow flexion contracture Elongated sella turcica Progressive neurologic deterioration Exercise intolerance Pigmentary retinopathy Visual impairment Flexion contracture Retinopathy Asthma Postural instability Neurodegeneration Dolichocephaly Attention deficit hyperactivity disorder Intellectual disability, profound Cervical instability Spastic tetraplegia Rod-cone dystrophy Thick lower lip vermilion Tetraparesis Pes cavus Diarrhea Cardiomyopathy Basilar invagination Large sella turcica Cutis marmorata telangiectatica congenita Acrania Intestinal malrotation Full cheeks Renal cyst Hirsutism Genu valgum Synophrys Paralysis Conductive hearing impairment Kyphoscoliosis Dental malocclusion Narrow mouth Recurrent infections Renal insufficiency Long philtrum Abnormality of the dentition Cryptorchidism Pain Aplasia cutis congenita over posterior parietal area Diffuse demyelination of the cerebral white matter Imperforate hymen Abnormality of the face Periventricular cysts Osteolytic defects of the phalanges of the hand Basilar impression Spastic tetraparesis Absent frontal sinuses Short nail Platybasia Biconcave vertebral bodies Generalized osteoporosis Large earlobe Vocal cord paralysis Long eyelashes Premature loss of teeth Proportionate short stature Dislocated radial head Vertebral fusion Metatarsus adductus Osteolysis Narrow palpebral fissure Increased bone mineral density Abnormal vertebral morphology Intellectual disability, progressive Scaphocephaly Aortic regurgitation Nail dysplasia Small nail Pulmonary arterial hypertension Hypoplastic fingernail Pulmonary artery atresia Abnormality of the upper limb Coarctation of aorta Tetralogy of Fallot Esophageal varix Esotropia Abnormality of the lower limb Gastrointestinal hemorrhage Short distal phalanx of finger Congenital hepatic fibrosis Cirrhosis Cleft upper lip Talipes Toe syndactyly Pulmonic stenosis Hemiparesis Encephalocele Finger syndactyly Portal hypertension Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Cortical dysplasia Oligodactyly Hypoplastic left heart Supernumerary nipple Cutis marmorata Pulmonary artery stenosis Abnormality of the metacarpal bones Arteriovenous malformation Bicuspid aortic valve Leukopenia Meningitis Aortic valve stenosis Telangiectasia Double outlet right ventricle Pachygyria Calvarial skull defect Leukemia Prominent nasal bridge Widely spaced teeth Intestinal pseudo-obstruction Tracheobronchomalacia Cervical cord compression Absent fingernail Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Venous malformation Abnormal pulmonary valve morphology Retinal fold Myelopathy Dermatan sulfate excretion in urine Obstructive sleep apnea Papilledema Absent toe Aplasia cutis congenita Abnormal heart valve morphology Mild short stature Incoordination Corneal dystrophy Retinoschisis Strabismus Porencephalic cyst Absent hand Periventricular leukomalacia Aplasia cutis congenita of scalp Sparse hair Hyperpigmented nevi Chylothorax Abnormality of the kidney Aplastic/hypoplastic toenail Cerebellar hypoplasia Alopecia Cataract Abnormal heart morphology Thrombocytopenia Abnormality of cardiovascular system morphology Syndactyly Hypertonia Atrial septal defect Hypoplasia of the corpus callosum Talipes equinovarus Ventricular septal defect Microcoria Facial palsy Recurrent singultus Hemihypertrophy Cerebral atrophy Cerebellar atrophy Hypoinsulinemia Cavum septum pellucidum Recurrent aphthous stomatitis Stomatitis Large forehead Raynaud phenomenon Severe global developmental delay Keratoconjunctivitis sicca Keratitis Cerebral palsy Conjunctivitis Clumsiness Overgrowth Syncope Anxiety Respiratory tract infection Abnormality of the foot Cerebral cortical atrophy Visceromegaly Short philtrum Micropenis Clinodactyly Short nose Depressed nasal bridge Fetal ascites J-shaped sella turcica Vacuolated lymphocytes Conjugated hyperbilirubinemia Hypopigmentation of the skin Fair hair Esophageal atresia Metaphyseal irregularity Abnormality of the thorax Aspiration Gingival overgrowth Cardiomegaly Nephrotic syndrome Hypoglycemia Intellectual disability, mild Micromelia Brachycephaly Congenital hip dislocation Large fontanelles Hypotelorism Hypoplasia of the maxilla Bulbous nose Hip dislocation Broad forehead Deeply set eye Malar flattening Premature skin wrinkling Fractures of the long bones Narrow iliac wings Lambdoidal craniosynostosis Reduced bone mineral density Microretrognathia Platyspondyly Retrognathia Pectus excavatum Cutis laxa Prominent superficial veins Delayed speech and language development Increased susceptibility to fractures Orbital craniosynostosis Crumpled long bones Multiple suture craniosynostosis Severe hydrops fetalis Communicating hydrocephalus Shallow orbits Hyperthyroidism Abnormality of the voice Abnormality of dental enamel Colpocephaly Abnormality of the metaphysis Abnormal form of the vertebral bodies Abnormality of the ribs Microdontia Bruising susceptibility Joint hyperflexibility Abnormal glycosylation Narrow nasal ridge Small for gestational age Pulmonary hypoplasia Progressive macrocephaly Amenorrhea Abnormal autonomic nervous system physiology Muscle stiffness Leukodystrophy Clonus Diplopia Cerebral calcification Peripheral demyelination Hypotension Dysphonia Chorea Gliosis Sudden cardiac death Sleep disturbance Dysmetria Abnormality of eye movement Nausea and vomiting Neurological speech impairment Leukoencephalopathy Encephalitis Abnormal pyramidal sign Increased CSF protein Pseudobulbar signs Large face Hypersomnia Aqueductal stenosis Bulbar signs Hypothermia Megalencephaly Poor coordination Drowsiness Precocious puberty Atrophy/Degeneration affecting the brainstem Muscle fibrillation Progressive spasticity Bowel incontinence Dysphasia Emotional lability Oral-pharyngeal dysphagia Self-injurious behavior Cough Hyperlordosis Abdominal distention Hypokinesia Ankyloglossia Lethal skeletal dysplasia Cloverleaf skull Short hallux Asplenia Severe intrauterine growth retardation Aniridia Slender long bone Flared metaphysis Thin clavicles Hyperostosis Disproportionate short-limb short stature Hypocalcemia Cardiac arrest Progressive microcephaly Decreased fetal movement Ambiguous genitalia Limb undergrowth Aplasia/hypoplasia of the extremities Overtubulated long bones Developmental regression Depressivity Hypothyroidism Weight loss Respiratory failure Diabetes mellitus Hyperhidrosis Dementia Constipation Hyporeflexia Vomiting Hypoplastic spleen Respiratory insufficiency Dysphagia Tremor Dysarthria Hyperreflexia Feeding difficulties Spasticity Muscle weakness Aplasia cutis congenita on trunk or limbs


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