Hydrocephalus, and Joint stiffness

Diseases related with Hydrocephalus and Joint stiffness

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

Top matches:

Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

THANATOPHORIC DYSPLASIA TYPE 1 Is also known as thanatophoric dwarfism type 1|td1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 1

Other less relevant matches:

Low match ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987).

THANATOPHORIC DYSPLASIA, TYPE I; TD1 Is also known as thanatophoric dysplasia|lethal short-limbed platyspondylic dwarfism, san diego type|thanatophoric dwarfism|td|platyspondylic lethal skeletal dysplasia, san diego type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about THANATOPHORIC DYSPLASIA, TYPE I; TD1

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

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

Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.

MULTIPLE SULFATASE DEFICIENCY Is also known as sulfatidosis, juvenile, austin type|mucosulfatidosis|juvenile sulfatidosis, austin type|msd

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE SULFATASE DEFICIENCY

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Joint stiffness

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly Short stature Global developmental delay Abnormality of the skeletal system Coarse facial features Muscular hypotonia Brachydactyly Frontal bossing Anteverted nares Narrow chest Micromelia Severe short stature Intellectual disability, severe Flexion contracture Abnormality of the metaphysis Short neck Wide anterior fontanel Kyphoscoliosis Hepatomegaly Aplasia/Hypoplasia of the lungs Acanthosis nigricans Platyspondyly Limb undergrowth Bowing of the long bones Abnormality of the kidney Skeletal dysplasia Polyhydramnios Proptosis Respiratory insufficiency Flat face Hyperreflexia Absent septum pellucidum Nystagmus Abnormal facial shape Strabismus Spasticity Abnormal form of the vertebral bodies Agenesis of corpus callosum Prominent forehead Increased intracranial pressure Hepatosplenomegaly Microcephaly Inguinal hernia Split hand

Rare Symptoms - Less than 30% cases

Scoliosis Interphalangeal joint contracture of finger Lumbar hyperlordosis Camptodactyly of finger Arthrogryposis multiplex congenita Short long bone Disproportionate short-limb short stature Long thorax Short ribs Flared metaphysis Spinal canal stenosis Obstructive sleep apnea Cleft palate Large forehead Cataract Cervical instability Epiphyseal dysplasia Developmental regression Splenomegaly Dermatan sulfate excretion in urine Progressive neurologic deterioration Urinary glycosaminoglycan excretion Dysostosis multiplex Distal arthrogryposis Recurrent upper respiratory tract infections Thickened skin Abnormality of the face High palate Macroglossia Postnatal growth retardation Aggressive behavior Hypoplasia of the odontoid process Umbilical hernia Hyperactivity Edema Optic atrophy Low-set ears Metaphyseal irregularity Radioulnar synostosis Peripheral demyelination Respiratory distress Growth delay Severe platyspondyly Flared iliac wings Abnormality of the ribs Corneal opacity Retrognathia Heterotopia Increased nuchal translucency Excessive wrinkled skin Spastic paraplegia Cloverleaf skull Hypoplastic ilia Micropenis Femoral bowing Redundant skin Intellectual disability, profound Lethal short-limbed short stature Patent ductus arteriosus Atrial septal defect Holoprosencephaly Adducted thumb Hemiplegia/hemiparesis Aqueductal stenosis Flexion contracture of thumb Hypertelorism Cryptorchidism Short sacroiliac notch Short femur Intrauterine growth retardation Apnea Midface retrusion Generalized hypotonia Cerebellar atrophy Waddling gait Sensorineural hearing impairment Tetraplegia Delayed speech and language development Hirsutism Visual impairment Dysphagia Epispadias Genu valgum Primitive reflex Fixed facial expression Abnormality of the upper urinary tract Cerebral atrophy Anterior wedging of L2 Colpocephaly Dolichocephaly Restlessness Submucous cleft hard palate Abnormality of the sternum Neonatal hypotonia Mental deterioration Skin rash Abnormality of the cerebral white matter Smooth philtrum Dysmetria Ichthyosis Retinal degeneration Ataxia Hip dysplasia Metaphyseal widening Aortic valve stenosis Abnormal heart valve morphology Sleep apnea Aseptic necrosis Thoracic kyphosis Abnormality of the penis Hypoplastic iliac wing Ovoid vertebral bodies Disproportionate short-trunk short stature Broad ribs Constrictive median neuropathy Spastic tetraparesis Accelerated skeletal maturation Opacification of the corneal stroma Decreased body weight Anterior wedging of L1 Myelopathy Retinal fold Zollinger-Ellison syndrome Prominent sternum Inferior vermis hypoplasia Abnormality of the cerebellar vermis Cervical myelopathy Tetraparesis Cervical cord compression Spastic tetraplegia Aplasia/Hypoplasia involving the skeletal musculature Congenital ptosis Limb joint contracture Hypoplastic acetabulae Joint contracture of the hand Leukodystrophy Thick eyebrow Camptodactyly Attention deficit hyperactivity disorder Myotonia Blepharophimosis Respiratory tract infection Abnormality of the pinna Hypoplasia of the brainstem Hydronephrosis Muscular dystrophy Retinopathy Posteriorly rotated ears Cerebellar hypoplasia Areflexia Pectus excavatum Hypospadias Pectus carinatum Congenital contracture Microphthalmia Specific learning disability Renal dysplasia Short palpebral fissure Renal hypoplasia Multicystic kidney dysplasia Renal hypoplasia/aplasia Abnormality of the urinary system Dandy-Walker malformation Talipes Renal agenesis Bifid uvula Pyloric stenosis High, narrow palate Pulmonary hypoplasia Arachnodactyly Abnormality of cardiovascular system morphology Long philtrum Neurodegeneration Broad hallux Olivopontocerebellar atrophy Broad hallux phalanx Developmental stagnation Increased CSF protein Abnormality of the periventricular white matter Lower limb hyperreflexia Coarse hair Periorbital edema Situs inversus totalis Abnormality of retinal pigmentation Dextrocardia Hydroureter Broad thumb Decreased muscle mass CNS demyelination Abnormality of peripheral nerve conduction Myopathy Feeding difficulties Hypoplasia of the corpus callosum Talipes equinovarus Ventricular septal defect Skeletal muscle atrophy Epicanthus Motor delay Ptosis Mucopolysacchariduria Micrognathia Failure to thrive Rapid neurologic deterioration Retrocerebellar cyst Hypoplastic vertebral bodies Mask-like facies Metatarsus adductus Narrow mouth Behavioral abnormality Hypothyroidism Acromelia Genu varum Abnormality of pelvic girdle bone morphology Elbow dislocation Chronic otitis media Mesomelia Limited elbow extension Disproportionate short stature Abnormality of the elbow Diaphyseal thickening Neonatal short-limb short stature Aplasia/hypoplasia of the extremities Narrow sacroiliac notch Childhood onset short-limb short stature Abnormality of the ilium Clinodactyly of the 5th finger Clonus Short finger Rough bone trabeculation Spondylometaphyseal dysplasia Enlarged joints Abnormal cortical bone morphology Fetal akinesia sequence Abnormal joint morphology Multiple joint contractures Respiratory failure Akinesia Osteoarthritis Peripheral axonal neuropathy Confusion Low-set, posteriorly rotated ears High forehead Wormian bones Rhizomelia Abnormality of the intervertebral disk Spastic paraparesis Hyporeflexia Hypertonia Noncommunicating hydrocephalus Corticospinal tract hypoplasia Clear cell renal cell carcinoma Renal cell carcinoma Paraparesis Small hand Paraplegia Abnormal pyramidal sign Carcinoma Dilatation Cognitive impairment Neoplasm Babinski sign Bilateral cryptorchidism Dental crowding Conductive hearing impairment Dental malocclusion Sudden cardiac death Short palm Joint hyperflexibility Neurological speech impairment Hyperlordosis Hyperhidrosis Visceromegaly Obesity Malar flattening Dysarthria Abnormality of the sacroiliac joint Esodeviation Oxycephaly Thoracic kyphoscoliosis Caudal appendage Glaucoma Insomnia Thoracolumbar kyphosis Increased mean corpuscular volume Communicating hydrocephalus Beaking of vertebral bodies Edema of the lower limbs Abnormality of the skull Protuberant abdomen Hypochromic anemia Protruding tongue Pericardial effusion Heart murmur Tachypnea Progressive hearing impairment Mitral regurgitation Inspiratory stridor Hyperplasia of the maxilla Pulmonary arterial hypertension Intervertebral space narrowing Hernia Cardiomyopathy Abnormality of nasopharyngeal adenoids Localized skin lesion Dysplastic aortic valve Focal seizures, afebril Abnormality of mucopolysaccharide metabolism Abnormality of the optic disc Short digit Anisopoikilocytosis Heparan sulfate excretion in urine Morphological abnormality of the central nervous system Obstructive lung disease J-shaped sella turcica Recurrent otitis media Mitral valve prolapse Pseudoarthrosis Relatively short spine Absent primary metaphyseal spongiosa Hyperplasia of the femoral trochanters Halberd-shaped pelvis Dumbbell-shaped metaphyses Long coccyx Abnormal metaphyseal vascular invasion Snail-like ilia Decreased fetal movement Flared humeral metaphysis Short diaphyses Hypoplastic cervical vertebrae Flared femoral metaphysis Anisospondyly Abnormal enchondral ossification Polymicrogyria Epidermal acanthosis Abnormality of the cardiovascular system Wide-cupped costochondral junctions Cyanosis Limitation of joint mobility Ascites Tachycardia Dyspnea Mandibular prognathia Small abnormally formed scapulae Abnormality of neuronal migration Small foramen magnum Severe short-limb dwarfism Craniofacial dysostosis Lethal skeletal dysplasia Small face Megalencephaly Abnormal anatomic location of the heart


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