Global developmental delay, and Cerebellar hypoplasia

Diseases related with Global developmental delay and Cerebellar hypoplasia

In the following list you will find some of the most common rare diseases related to Global developmental delay and Cerebellar hypoplasia that can help you solving undiagnosed cases.

Top matches:

Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Cerebellar hypoplasia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25

Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.

PONTOCEREBELLAR HYPOPLASIA TYPE 5 Is also known as olivopontocerebellar hypoplasia, fetal-onset|fetal-onset olivopontocerebellar hypoplasia|pch5

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cerebellar hypoplasia
  • Spontaneous abortion


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 5

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE; MCPH14

Joubert syndrome-25 is an autosomal recessive ciliopathy characterized by delayed psychomotor development and oculomotor apraxia associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. The clinical manifestations appear to be confined to the neurologic system, as patients tend not to have additional renal, liver, or limb involvement (summary by Srour et al., 2015)For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Cerebellar hypoplasia
  • Apraxia


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 25; JBTS25

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Manzini et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8; MDDGA8 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gtdc2-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ventriculomegaly
  • Hydrocephalus


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8; MDDGA8

Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.

CEREBELLAR ATAXIA, CAYMAN TYPE Is also known as cayman ataxia

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, CAYMAN TYPE

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.

OSTEOGENESIS IMPERFECTA, TYPE XV; OI15 Is also known as oi, type xv

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XV; OI15

Top 5 symptoms//phenotypes associated to Global developmental delay and Cerebellar hypoplasia

Symptoms // Phenotype % cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Cerebellar hypoplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Rare Symptoms - Less than 30% cases

Truncal ataxia Microphthalmia Tremor Retinal dysplasia Dysmetria Short stature Gait ataxia Hyperactivity Rigidity Inability to walk Absent speech Generalized myoclonic seizures Cerebellar atrophy Vegetative state Muscular hypotonia Hypoplasia of the corpus callosum Dysarthria Autism Intention tremor Broad-based gait Abnormal retinal morphology Nonprogressive cerebellar ataxia Scoliosis Platyspondyly Recurrent fractures Blue sclerae Arnold-Chiari malformation Increased susceptibility to fractures Thin ribs Hypoplasia of the pons Vertebral compression fractures Schizencephaly Gait disturbance Ventriculomegaly Type II lissencephaly Apraxia Growth delay Strabismus Congenital hip dislocation Oligodontia Cognitive impairment Delayed ability to walk Spontaneous abortion Olivopontocerebellar hypoplasia Intellectual disability, severe Aggressive behavior Poor speech Cerebellar vermis hypoplasia Oculomotor apraxia Congenital muscular dystrophy Abnormal electroretinogram Molar tooth sign on MRI Delayed speech and language development Polymicrogyria Abnormal cerebellum morphology Heterotopia Hypoplasia of the brainstem Cortical dysplasia Hydrocephalus Muscular dystrophy Intellectual disability, profound Lissencephaly Cerebellar agenesis


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