Global developmental delay, and Apnea

Diseases related with Global developmental delay and Apnea

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

Top matches:

Joubert syndrome-23 is an autosomal recessive neurodevelopmental disorder characterized by delayed development, abnormal eye movements, and abnormal breathing pattern associated with a characteristic hindbrain malformation apparent on brain imaging and known as the 'molar tooth sign.' Compared to other forms of Joubert syndrome, the phenotype is relatively mild, and other organ systems are generally not affected (summary by Bachmann-Gagescu et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Polydactyly
  • Apnea
  • Abnormality of the eye
  • Coloboma


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 23; JBTS23

Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1 ) by an earlier age at onset.Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of Benign Familial Neonatal SeizuresSee also BFNS2 (OMIM ), which is caused by mutation in the KCNQ3 gene (OMIM ) on chromosome 8q24, and BFNS3 (OMIM ), which has been associated with a pericentric inversion on chromosome 5. See {269720} for a possible autosomal recessive form.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Motor delay
  • Fever
  • Myoclonus


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

Joubert syndrome represents a classic ciliopathy characterized by hypotonia, ataxia, cognitive impairment, and a distinctive brain malformation, the 'molar tooth sign.' In addition, retinal dystrophy, cystic kidney disease, liver fibrosis, and polydactyly occur in a subset of patients (summary by Wheway et al., 2015).For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 33; JBTS33

Other less relevant matches:

Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.

EPILEPTIC ENCEPHALOPATHY WITH GLOBAL CEREBRAL DEMYELINATION Is also known as aspartate-glutamate carrier 1 deficiency|agc1 deficiency|mitochondrial aspartate-glutamate carrier 1 deficiency|hypomyelination, global cerebral

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY WITH GLOBAL CEREBRAL DEMYELINATION

Early infantile epileptic encephalopathy-34 is an autosomal recessive severe neurologic disorder characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally (summary by Stodberg et al., 2015).For a discussion of genetic heterogeneity of EIEE, see {308350}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cerebral atrophy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34; EIEE34

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Feeding difficulties
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 30; JBTS30

KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.

KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as kcnq2-related neonatal epileptic encephalopathy|kcnq2-nee

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscular hypotonia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 5; JBTS5

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A

Top 5 symptoms//phenotypes associated to Global developmental delay and Apnea

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Molar tooth sign on MRI Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Renal cyst Retinal dystrophy Epileptic encephalopathy Abnormality of the eye

Rare Symptoms - Less than 30% cases

Abnormality of eye movement Heterotopia Abnormality of the kidney Cerebral atrophy Ataxia Tachypnea Feeding difficulties Profound global developmental delay Muscular hypotonia Severe muscular hypotonia Inability to walk CNS hypomyelination Poor gross motor coordination Facial erythema Nystagmus EEG with burst suppression Abnormal globus pallidus morphology Generalized tonic seizures Rod-cone dystrophy Stage 5 chronic kidney disease Infantile muscular hypotonia Hypsarrhythmia Cerebral edema Epileptic spasms Abnormality of the cerebral white matter Pallor Dystonia Hypoplasia of the corpus callosum Hypopituitarism Optic nerve hypoplasia Dandy-Walker malformation Bifid uvula Postaxial polydactyly Delayed speech and language development Ptosis Apraxia Nephronophthisis Cerebellar vermis hypoplasia Failure to thrive Multiple renal cysts Decreased liver function Wide anterior fontanel Large fontanelles Triangular face Polymicrogyria Elevated hepatic transaminase High forehead Anteverted nares Hepatomegaly Depressed nasal bridge Thickened superior cerebellar peduncle Oculomotor apraxia Neonatal breathing dysregulation Impaired renal concentrating ability Severe failure to thrive Episodic tachypnea Aplasia/Hypoplasia of the cerebellar vermis Renal cortical cysts Tapetoretinal degeneration Agenesis of cerebellar vermis Central apnea Retinal coloboma Congenital blindness Lissencephaly Caesarian section Optic atrophy Breech presentation Involuntary movements Generalized-onset seizure Delayed myelination Severe global developmental delay Absent speech Hyperreflexia Spasticity Cognitive impairment Focal clonic seizures Myokymia Exercise-induced myalgia Muscle stiffness Cyanosis Leukoencephalopathy Febrile seizures Generalized tonic-clonic seizures Abnormality of the nervous system Myalgia Myoclonus Fever Motor delay Dysplastic corpus callosum Cerebellar dysplasia Breathing dysregulation Coloboma Intellectual disability, profound Poor head control Weak cry Decreased head circumference Neurodevelopmental delay Opisthotonus Retinal degeneration Feeding difficulties in infancy Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Hypertonia Cardiomyopathy Skeletal muscle atrophy Sensorineural hearing impairment Hearing impairment Hemiclonic seizures Poor eye contact Generalized tonic-clonic seizures with focal onset Excessive salivation Delayed CNS myelination Atonic seizures Muscle fibrillation Postnatal microcephaly Status epilepticus Focal-onset seizure Abnormal pyramidal sign Developmental regression Encephalopathy Cerebral hypomyelination Large face


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