Hydrocephalus, and Kyphosis

Diseases related with Hydrocephalus and Kyphosis

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Kyphosis 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

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME

Medium match MASA SYNDROME

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) 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). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

MASA SYNDROME Is also known as spastic paraplegia 1, x-linked|thumb, congenital clasped, with mental retardation|gareis-mason syndrome|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|clasped thumb and mental retardation|spg1|mental retardation, aphasia, shufflin

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASA SYNDROME

Other less relevant matches:

Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 2; KLEFS2

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

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

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

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

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.

MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME Is also known as meg-pmg-megacc syndrome|mpph syndrome|megalencephaly, polymicrogyria, mega corpus callosum syndrome|mpph|megalencephaly, mega corpus callosum, and complete lack of motor development

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Kyphosis

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly

Common Symptoms - More than 50% cases

Frontal bossing

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Proptosis Generalized hypotonia Downslanted palpebral fissures High palate Absent speech Skeletal dysplasia Intellectual disability, profound Brachydactyly Hearing impairment Muscular hypotonia Platyspondyly Delayed speech and language development Abnormality of the metaphysis Atrial septal defect Cognitive impairment Depressed nasal bridge Midface retrusion Abnormal facial shape

Rare Symptoms - Less than 30% cases

Short sacroiliac notch Thick corpus callosum Lethal short-limbed short stature Lumbar hyperlordosis Hyperlordosis Megalencephaly Communicating hydrocephalus Increased nuchal translucency Redundant skin Cloverleaf skull Narrow chest Low-set ears Respiratory insufficiency Patent ductus arteriosus Polyhydramnios Everted lower lip vermilion Abnormality of the kidney Mandibular prognathia Micromelia Hypoplastic ilia Flat face High forehead Acanthosis nigricans Upslanted palpebral fissure Ptosis Aplasia/Hypoplasia of the lungs Short femur Strabismus Microcephaly Prominent forehead Wormian bones Microdontia Telecanthus Macrotia Kyphoscoliosis Coronal craniosynostosis Turricephaly Blindness High pitched voice Joint hyperflexibility Bowing of the long bones Spasticity Blue sclerae Severe short stature Motor delay Osteopenia Craniosynostosis Recurrent fractures Triangular face Posterior embryotoxon Megalocornea Abnormality of the skeletal system Orbital craniosynostosis Crumpled long bones Hypoplasia of the iris Aniridia Muscle weakness Anterior synechiae of the anterior chamber Wide nasal bridge Abnormality of the abdominal wall Abnormality of the dentition Hypodontia Conductive hearing impairment Thin upper lip vermilion Umbilical hernia Short philtrum Anal atresia Confusion Glaucoma Microcornea Inguinal hernia Hypoplasia of the maxilla Hernia Growth hormone deficiency Choanal atresia Hypoplasia of dental enamel Reduced number of teeth Slurred speech Prominent supraorbital ridges Myotonia Visual loss Abnormality of dental morphology Anal stenosis Hypospadias Excessive wrinkled skin Rieger anomaly Pachygyria Ventricular septal defect Hypoplasia of the corpus callosum Intellectual disability, severe Polydactyly Narrow mouth Muscular hypotonia of the trunk Abnormal cardiac septum morphology Polymicrogyria Postaxial polydactyly Postaxial hand polydactyly Mitral regurgitation Knee flexion contracture Visual impairment Large for gestational age Cortical dysplasia Infantile spasms Long palpebral fissure Thoracic scoliosis Abnormally large globe Dilation of lateral ventricles Abnormal localization of kidney Cavum septum pellucidum Abnormal nasal morphology Capillary malformation Skeletal muscle atrophy Wide-cupped costochondral junctions Polycoria Decreased fetal movement Bilateral choanal atresia Axenfeld anomaly Abnormally prominent line of Schwalbe Joint stiffness Split hand Heterotopia Wide anterior fontanel Femoral bowing Severe hydrops fetalis Abnormality of the sacroiliac joint Limitation of joint mobility Encephalocele Small abnormally formed scapulae Short ribs Holoprosencephaly Disproportionate short-limb short stature Metaphyseal irregularity Abnormality of neuronal migration Flared metaphysis Short thorax Occipital encephalocele Small face Severe short-limb dwarfism Small foramen magnum Multiple suture craniosynostosis Long neck Vertebral compression fractures Spastic paraparesis Clinodactyly of the 5th finger Babinski sign Agenesis of corpus callosum Pes cavus Abnormality of the nervous system Camptodactyly of finger Spastic paraplegia Paraplegia Interphalangeal joint contracture of finger Muscle stiffness Paraparesis Adducted thumb Talipes equinovarus Hemiplegia/hemiparesis Aphasia Progressive spasticity Hyperactive deep tendon reflexes Down-sloping shoulders Shuffling gait Aqueductal stenosis Hand clenching Severe hydrocephalus Behavioral abnormality Short nose Intellectual disability, mild Gait disturbance Hyperactivity Flexion contracture Pectus excavatum Retrognathia Postnatal growth retardation Oligohydramnios Microretrognathia Reduced bone mineral density Thin ribs Decreased skull ossification Lambdoidal craniosynostosis Narrow iliac wings Fractures of the long bones Congestive heart failure Hyperreflexia Tetraplegia Cardiomegaly Spastic tetraplegia Atrial fibrillation Aortic valve stenosis Multiple joint contractures Macroorchidism Abnormality of the thumb Atrial flutter Venous insufficiency Contractures of the large joints Sclerotic vertebral endplates Brachycephaly Autism Shallow orbits Intrauterine growth retardation Large hands Disproportionate tall stature Long fingers Long foot Slender build Metopic synostosis Expressive language delay Severe expressive language delay Growth delay Failure to thrive Micrognathia Edema Tall stature Bruising susceptibility Delayed eruption of teeth Abnormality of the ribs Abnormal form of the vertebral bodies Hydrops fetalis Abnormality of dental enamel Increased susceptibility to fractures Abnormality of the voice Pathologic fracture Hyperthyroidism Central hypotonia Sparse eyebrow High myopia Coarse facial features Myopia Deeply set eye Aggressive behavior Developmental regression Synophrys Thick eyebrow Highly arched eyebrow Dandy-Walker malformation Cerebellar vermis hypoplasia Mild microcephaly Duplication of thumb phalanx Ataxia Cerebellar atrophy Overgrowth Malar flattening Cerebellar hypoplasia Posteriorly rotated ears Cerebral cortical atrophy Gait ataxia Pes planus Difficulty walking Joint laxity Prominent nasal bridge Arachnodactyly Long face Abnormal cerebellum morphology Vascular ring


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