Abnormal facial shape, and Brain atrophy

Diseases related with Abnormal facial shape and Brain atrophy

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Brain atrophy that can help you solving undiagnosed cases.


Top matches:

Low match HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3


HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 3, formerly

Related symptoms:

  • Abnormal facial shape
  • Ventriculomegaly
  • Hydrocephalus
  • Cerebellar hypoplasia
  • Polyhydramnios


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63

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Other less relevant matches:

Low match EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1; IECEE1


IECEE1 is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and resulting in severe to profound intellectual disability with poor or absent speech. Most patients never achieve independent walking. Patients typically have onset of refractory multifocal seizures between the first weeks and years of life, and some may show developmental regression. Additional features, such as hypotonia and cortical visual impairment, are more variable (summary by Myers et al., 2017). Genetic Heterogeneity of Infantile or Early Childhood Epileptic EncephalopathySee also IECEE2 (OMIM ), caused by mutation in the GABRB2 gene (OMIM ) on chromosome 5q34, and IECEE3 (OMIM ), caused by mutation in the ATP6V1A gene (OMIM ) on chromosome 3q13.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1; IECEE1

Low match NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY; NEDMEBA


NEDMEBA is an autosomal recessive neurodegenerative disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia (summary by Marin-Valencia et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY; NEDMEBA

Low match MENTAL RETARDATION, X-LINKED 49; MRX49


Nonsyndromic mental retardation. Hypotonia in infancy, poor or absent speech, and other disorders are occasionally associated.

MENTAL RETARDATION, X-LINKED 49; MRX49 Is also known as mental retardation, x-linked 15|mrx15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 49; MRX49

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38


MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65


Early infantile epileptic encephalopathy-65 is characterized by onset of intractable seizures of various types within 6 months of birth, severe to profound psychomotor developmental delay, and mild facial dysmorphism (summary by Nakashima et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65

Low match GALLOWAY-MOWAT SYNDROME 5; GAMOS5


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 5; GAMOS5

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Brain atrophy

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Absent speech Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Brain atrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Cerebral atrophy

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Spasticity Epileptic encephalopathy Ventriculomegaly Cerebral cortical atrophy Hypertelorism Strabismus Encephalopathy

Rare Symptoms - Less than 30% cases


Generalized tonic-clonic seizures Tented upper lip vermilion Ataxia Developmental regression Generalized-onset seizure Generalized myoclonic seizures Cerebellar atrophy Dystonia Hypsarrhythmia Epicanthus Deeply set eye Coarse facial features Everted lower lip vermilion Neonatal hypotonia Depressed nasal bridge Downturned corners of mouth Hyperreflexia Aggressive behavior Abnormal pyramidal sign Low-set ears Downslanted palpebral fissures Intellectual disability, severe Dysarthria Highly arched eyebrow Hearing impairment Glomerulosclerosis Pachygyria Nephrotic syndrome Peripheral demyelination Stage 5 chronic kidney disease Arachnodactyly Proteinuria Mandibular prognathia Corpus callosum atrophy Progressive microcephaly Loss of speech Choreoathetosis Esotropia Dysmetria Facial palsy Dysphagia Focal impaired awareness seizure Delayed speech and language development Nystagmus Generalized tonic-clonic seizures with focal onset Growth delay Focal-onset seizure Failure to thrive Thin upper lip vermilion Midface retrusion Long philtrum Feeding difficulties Appendicular hypotonia Arachnoid cyst Intellectual disability, profound Severe hydrocephalus Inability to walk Hydranencephaly Preeclampsia Holoprosencephaly Dandy-Walker malformation Polyhydramnios Cerebellar hypoplasia Hydrocephalus Abnormality of movement Cerebral palsy Poor speech Short stature Intellectual disability, mild Behavioral abnormality Motor delay Scoliosis Atrophy/Degeneration affecting the brainstem Stereotypy Hypoplasia of the corpus callosum Multifocal seizures Overlapping toe Multifocal epileptiform discharges Cerebral visual impairment Delayed myelination Unsteady gait Talipes Visual impairment Delayed ability to walk Focal segmental glomerulosclerosis



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