Abnormality of the skeletal system, and Agenesis of corpus callosum

Diseases related with Abnormality of the skeletal system and Agenesis of corpus callosum

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Agenesis of corpus callosum that can help you solving undiagnosed cases.


Top matches:

Low match INFANTILE OSTEOPETROSIS WITH NEUROAXONAL DYSPLASIA


This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.

Related symptoms:

  • Abnormality of the skeletal system
  • Cerebral atrophy
  • Abnormality of metabolism/homeostasis
  • Agenesis of corpus callosum
  • Partial agenesis of the corpus callosum


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE OSTEOPETROSIS WITH NEUROAXONAL DYSPLASIA

Low match MIRROR MOVEMENTS 1; MRMV1


Mirror movements are contralateral involuntary movements that mirror voluntary ones. Whereas mirror movements are occasionally found in normal young children, persistence beyond the age of 10 years is abnormal. Congenital mirror movements tend to persist throughout adulthood and tend to occur more commonly in the upper extremities (summary by Sharafaddinzadeh et al., 2008 and Srour et al., 2010). Some patients with DCC mutations have agenesis of the corpus callosum (Marsh et al., 2017). Genetic Heterogeneity of Mirror MovementsSee also MRMV2 (OMIM ), caused by mutation in the RAD51 gene (OMIM ) on chromosome 15q15, and MRMV3 (OMIM ), caused by mutation in the DNAL4 gene (OMIM ) on chromosome 22q13.

MIRROR MOVEMENTS 1; MRMV1 Is also known as mirror movements 1 and/or agenesis of the corpus callosum|bimanual synergia|mirror movements, congenital

Related symptoms:

  • Pain
  • Delayed speech and language development
  • Intellectual disability, mild
  • Agenesis of corpus callosum
  • Abnormality of the nervous system


SOURCES: OMIM MENDELIAN

More info about MIRROR MOVEMENTS 1; MRMV1

Low match PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY


Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia.

PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY Is also known as pdhbd|pyruvate dehydrogenase complex e1 component subunit beta deficiency

Related symptoms:

  • Generalized hypotonia
  • Agenesis of corpus callosum
  • Acidosis
  • Lactic acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY

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Other less relevant matches:

Low match MICROPHTHALMIA, SYNDROMIC 11; MCOPS11


Related symptoms:

  • Global developmental delay
  • Cleft palate
  • Microphthalmia
  • Agenesis of corpus callosum
  • Cleft lip


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 11; MCOPS11

Low match HYDROLETHALUS SYNDROME 2; HLS2


Hydrolethalus syndrome is an autosomal recessive embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. HLS2 is considered a ciliopathy (summary by Putoux et al., 2011).Acrocallosal syndrome (ACLS ) is an allelic disorder with a less severe phenotype.For a discussion of genetic heterogeneity of hydrolethalus syndrome, see {236680}.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Ventriculomegaly
  • Hydrocephalus
  • Agenesis of corpus callosum


SOURCES: OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 2; HLS2

Low match BAND HETEROTOPIA; BH


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about BAND HETEROTOPIA; BH

Low match GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2

Low match OROFACIODIGITAL SYNDROME XV; OFD15


OROFACIODIGITAL SYNDROME XV; OFD15 Is also known as oral-facial-digital syndrome, type xv|ofds xv

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Wide nasal bridge
  • Ventriculomegaly
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XV; OFD15

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67


Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67 Is also known as spg67

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Intellectual disability, mild
  • Babinski sign
  • Agenesis of corpus callosum


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67

Low match CHUDLEY-MCCULLOUGH SYNDROME


Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.

CHUDLEY-MCCULLOUGH SYNDROME Is also known as dfnb82, formerly|deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts|deafness, autosomal recessive 82, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHUDLEY-MCCULLOUGH SYNDROME

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Agenesis of corpus callosum

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
Partial agenesis of the corpus callosum Uncommon - Between 30% and 50% cases
Intellectual disability, mild Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Agenesis of corpus callosum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Generalized hypotonia

Rare Symptoms - Less than 30% cases


Polydactyly Postaxial polydactyly Abnormal facial shape Molar tooth sign on MRI Cleft palate Seizures Macrocephaly Bimanual synkinesia Polymicrogyria Heterotopia Hyperreflexia Cerebral cortical atrophy Difficulty walking Lobulated tongue Broad hallux Abnormality of movement Flat face Lower limb spasticity Hydronephrosis Anteverted nares Babinski sign Abnormal myelination Spastic gait Congenital sensorineural hearing impairment Gray matter heterotopias Dysplastic corpus callosum Prelingual sensorineural hearing impairment Cerebellar dysplasia Colpocephaly Arachnoid cyst Severe sensorineural hearing impairment Cortical dysplasia Bilateral sensorineural hearing impairment Generalized amyotrophy Cerebellar hypoplasia Dilatation Hypoplasia of the corpus callosum Sensorineural hearing impairment Hearing impairment Aplasia/Hypoplasia of the cerebellar vermis Limb tremor Progressive spastic paraplegia Wide nasal bridge Sleep disturbance Hypertelorism Involuntary movements Respiratory arrest Severe lactic acidosis Stridor Metabolic acidosis Lactic acidosis Acidosis Clumsiness Cleft lip Abnormality of the nervous system Delayed speech and language development Pain Fetal distress Osteopetrosis Abnormality of metabolism/homeostasis Microphthalmia Cleft upper lip Hypoplasia of the pons Behavioral abnormality Ankle clonus Clonus Unsteady gait Scoliosis Profound global developmental delay Cerebral atrophy Intellectual disability, severe Bilateral cleft lip Spasticity Anencephaly Preaxial polydactyly Micrognathia Agenesis of pineal gland Bilateral cleft lip and palate Large foramen magnum



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