Abnormal facial shape, and Delayed myelination

Diseases related with Abnormal facial shape and Delayed myelination

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


Top matches:

Low match OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD


OBHD is a neurodevelopmental disorder characterized by global developmental delay and hyperphagia resulting in obesity. Some patients may develop seizures (summary by Hamdan et al., 2017).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD

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

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Other less relevant matches:

Low match INTELLECTUAL DISABILITY-STRABISMUS SYNDROME


Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-STRABISMUS SYNDROME

Low match SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME


Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).

SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME Is also known as sino syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64


Early infantile epileptic encephalopathy-64 is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64

Low match DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY


Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26


COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

Low match PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY


Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.

PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY Is also known as hypermethioninemia due to s-adenosylhomocysteine hydrolase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSYCHOMOTOR RETARDATION DUE TO S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY

Low match NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL


NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Delayed myelination

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Strabismus Feeding difficulties Failure to thrive Hypoplasia of the corpus callosum Epicanthus Depressed nasal bridge Growth delay Cognitive impairment Absent speech Cerebral atrophy Hypertelorism Dystonia

Rare Symptoms - Less than 30% cases


Limb hypertonia Prominent forehead Aggressive behavior Cardiomyopathy Myopathy Deeply set eye Hyperactivity Focal-onset seizure Frontal bossing Esotropia Delayed gross motor development Behavioral abnormality Poor speech Hyperreflexia Muscular hypotonia Unsteady gait Status epilepticus High palate Acidosis Lactic acidosis Chorea Inability to walk Hepatic failure Spasticity Obesity Encephalopathy Delayed speech and language development Developmental regression Epileptic encephalopathy Paresthesia Malabsorption Cirrhosis Dyspnea Triangular face Brain atrophy High forehead Postnatal microcephaly Babinski sign Narrow mouth Sparse hair Increased serum lactate Hyporeflexia Bulbous nose Muscle weakness Metabolic acidosis Adducted thumb Tented upper lip vermilion Underdeveloped nasal alae Aciduria Infantile muscular hypotonia Neoplasm Blue sclerae Hypertyrosinemia Bruxism Delayed ability to walk Involuntary movements Tapered finger Everted lower lip vermilion Joint hypermobility Synophrys Pes planus Gait ataxia Cerebellar atrophy Low-set ears Ataxia Hearing impairment Hypermethioninemia Neoplasm of the liver Exercise intolerance Long philtrum Ragged-red muscle fibers Glucose intolerance Exertional dyspnea Mitochondrial myopathy Gastrointestinal dysmotility Abnormal activity of mitochondrial respiratory chain Motor delay Poor head control Edema Abnormality of the dentition Respiratory failure Abnormality of the liver Hepatitis Cholestasis Microphthalmia Dilation of lateral ventricles Short nose Multifocal epileptiform discharges Upslanted palpebral fissure Postnatal macrocephaly Generalized myoclonic seizures Long face Neurological speech impairment Broad forehead Microtia Hyperlordosis Gastroesophageal reflux Tremor Macrocephaly Multifocal seizures Cerebral visual impairment Telecanthus Hypsarrhythmia Talipes Visual impairment Anterior plagiocephaly Overweight Poor eye contact Polyphagia Absence seizures Stereotypy Generalized-onset seizure Facial asymmetry Severe global developmental delay Autistic behavior Hypothyroidism Growth hormone deficiency Anteverted nares Abnormal CNS myelination Downslanted palpebral fissures Cataract Hemiparesis Febrile seizures Smooth philtrum Generalized tonic-clonic seizures Thin upper lip vermilion Macrotia Cerebral cortical atrophy Cerebellar hypoplasia Hypertonia Micrognathia Esophoria Partial agenesis of the corpus callosum Neurodevelopmental delay Progressive spastic paraplegia Plagiocephaly Optic disc pallor Full cheeks Astigmatism Paraplegia Hypermetropia Spastic paraplegia Muscular hypotonia of the trunk Polyhydramnios Reduced visual acuity Agenesis of corpus callosum Nystagmus Low frustration tolerance



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Wide nasal bridge and Increased body weight, related diseases and genetic alterations Macrocephaly and Alzheimer disease, related diseases and genetic alterations Low-set ears and Anteverted nares, related diseases and genetic alterations Hypertension and Hirsutism, related diseases and genetic alterations Hypertelorism and Acute myeloid leukemia, related diseases and genetic alterations

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