Hydrocephalus, and Skeletal dysplasia

Diseases related with Hydrocephalus and Skeletal dysplasia

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

Top matches:

Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic ) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.

ISOLATED CLOVERLEAF SKULL SYNDROME Is also known as kleeblattschadel|cloverleaf skull

Related symptoms:

  • Cognitive impairment
  • Hydrocephalus
  • Malar flattening
  • Midface retrusion
  • Proptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ISOLATED CLOVERLEAF SKULL SYNDROME

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

Medium match NASU-HAKOLA DISEASE

Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

NASU-HAKOLA DISEASE Is also known as plosl|dementia, prefrontal, with bone cysts|plo-sl|dementia, progressive, with lipomembranous polycystic osteodysplasia|nasu-hakola disease|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|brain-bone-fat disease|nhd|presenile d

Related symptoms:

  • Seizures
  • Pain
  • Spasticity
  • Gait disturbance
  • Ventriculomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NASU-HAKOLA DISEASE

Other less relevant matches:

Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.

PROTEUS-LIKE SYNDROME Is also known as cohen-hayden syndrome

Related symptoms:

  • Intellectual disability
  • Cataract
  • Myopia
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: ORPHANET MENDELIAN

More info about PROTEUS-LIKE SYNDROME

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

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

Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE Is also known as nans deficiency|semd, genevieve type|semdg|semd, geneviÈve type

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE

Top 5 symptoms//phenotypes associated to Hydrocephalus and Skeletal dysplasia

Symptoms // Phenotype % cases
Macrocephaly Common - Between 50% and 80% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Platyspondyly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly Proptosis Seizures Intellectual disability Kyphosis Brachydactyly Depressed nasal bridge Micromelia Abnormality of the metaphysis Cognitive impairment Micrognathia Flat face Cloverleaf skull Limitation of joint mobility

Rare Symptoms - Less than 30% cases

Respiratory insufficiency Cerebral atrophy Occipital encephalocele Short ribs Pathologic fracture Abnormality of the kidney Polyhydramnios Hypoplasia of the corpus callosum Edema Acanthosis nigricans Redundant skin Lethal short-limbed short stature Patent ductus arteriosus Increased nuchal translucency Aplasia/Hypoplasia of the lungs Flared metaphysis Short femur Metaphyseal irregularity Hypoplastic ilia Atrial septal defect Hearing impairment Short sacroiliac notch Bowing of the long bones Narrow chest Severe short stature Midface retrusion Craniosynostosis Communicating hydrocephalus Global developmental delay Abnormal form of the vertebral bodies Generalized hypotonia Growth delay Low-set ears Intrauterine growth retardation Abnormality of the skeletal system Short nose Joint hyperflexibility Downslanted palpebral fissures Bruising susceptibility Joint stiffness Abnormality of the parathyroid gland Microdontia Thymus hyperplasia Bronchogenic cyst Recurrent fractures Hydrops fetalis Wormian bones Delayed eruption of teeth Abnormality of dental enamel Scoliosis Hypertelorism Failure to thrive Abnormality of the voice Increased susceptibility to fractures Osteopenia Orbital craniosynostosis Crumpled long bones Multiple suture craniosynostosis Severe hydrops fetalis Abnormality of the ribs Vertebral compression fractures Coronal craniosynostosis Shallow orbits Turricephaly Central hypotonia High palate Hyperthyroidism High pitched voice Blue sclerae Decreased fetal movement Intellectual disability, profound Infantile muscular hypotonia Abnormality of the pinna Synophrys Confusion Bulbous nose Wide nose Hirsutism Thick vermilion border Abnormality of the skin Low posterior hairline Thick lower lip vermilion Low anterior hairline Spondyloepiphyseal dysplasia Coarse facial features Short femoral neck Irregular vertebral endplates Flat acetabular roof Spondyloepimetaphyseal dysplasia Small epiphyses Irregular epiphyses Carpal bone hypoplasia Narrow iliac wings Long fibula Metaphyseal striations Posterior scalloping of vertebral bodies Joint laxity Brachycephaly Split hand Small face Heterotopia Wide anterior fontanel Femoral bowing Excessive wrinkled skin Abnormality of the sacroiliac joint Epidermal nevus Encephalocele Holoprosencephaly Disproportionate short-limb short stature Abnormality of neuronal migration Short thorax Severe short-limb dwarfism Prominent forehead Small foramen magnum Small abnormally formed scapulae Wide-cupped costochondral junctions Microcephaly Ataxia Nystagmus Strabismus Abnormal facial shape Epicanthus Short neck Intellectual disability, severe Shagreen patch Dolichocephaly Subcutaneous lipoma Aggressive behavior Hypoplasia of the calcaneus Pain Spasticity Gait disturbance Behavioral abnormality Babinski sign Dementia Myoclonus Cerebral cortical atrophy Arthralgia EEG abnormality Developmental regression Abnormality of the calcaneus Irritability Neurological speech impairment Leukemia Abnormality of the foot Abnormality of movement Gliosis Chorea Urinary incontinence Memory impairment Peripheral demyelination Cerebral calcification Apraxia Metaphyseal cupping of proximal phalanges Distal shortening of limbs Bone pain Cerebellar hypoplasia Malar flattening High forehead Low-set, posteriorly rotated ears Finger syndactyly Convex nasal ridge Amniotic constriction ring Recurrent corneal erosions Craniofacial dysostosis Elbow ankylosis Intellectual disability, mild Microphthalmia Hyperkeratosis Metaphyseal cupping of metacarpals Wide mouth Short philtrum Short palm Short foot Depressed nasal ridge Rhizomelia Thin ribs Hypoplastic iliac wing Decreased skull ossification 11 pairs of ribs Metaphyseal chondrodysplasia Severe platyspondyly Abnormality of epiphysis morphology Oculomotor apraxia Epibulbar dermoid Splenomegaly Postaxial hand polydactyly Renal dysplasia Hamartoma Median cleft lip Microglossia Anterior hypopituitarism Glioma Hypothalamic hamartoma Cataract Myopia Anteverted nares Mandibular prognathia Hip dislocation Retinal detachment Hemangioma Polycystic ovaries Hyperostosis Open bite Irregular hyperpigmentation Exostoses Genu recurvatum Heterochromia iridis Lower limb asymmetry Abnormal pupil morphology Venous insufficiency Pulmonary hypoplasia Micropenis Leukoencephalopathy Bone cyst Reduced bone mineral density Abnormality of the hand Personality changes Alzheimer disease Basal ganglia calcification Axonal loss Neurofibrillary tangles Acute leukemia Senile plaques Cerebral edema Disinhibition Primitive reflex Abnormal heart morphology Inappropriate behavior Abnormal upper motor neuron morphology Agnosia Frontal lobe dementia Functional abnormality of the gastrointestinal tract Caudate atrophy Abnormal adipose tissue morphology Lack of insight Euphoria Neoplasm Cleft palate Abnormality of cardiovascular system morphology Small basal ganglia


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