Abnormal facial shape, and Severe global developmental delay

Diseases related with Abnormal facial shape and Severe global developmental delay

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


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Medium 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

Medium match LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6


Lissencephaly-6 is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6

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Other less relevant matches:

Medium match X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS


X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscle weakness


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS

Medium match CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY


Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.

CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY Is also known as clwm

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY

Medium match FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM


Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM Is also known as issd|sialuria, finnish type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM

Medium match MENTAL RETARDATION, X-LINKED 91; MRX91


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 91; MRX91

Medium match LISSENCEPHALY, X-LINKED, 1; LISX1


Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997).There are several X-linked loci that affect neuronal migration, including the Aicardi locus (OMIM ).

LISSENCEPHALY, X-LINKED, 1; LISX1 Is also known as xlis|lissencephaly and agenesis of corpus callosum

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY, X-LINKED, 1; LISX1

Medium match 2Q24 MICRODELETION SYNDROME


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Medium match PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION


Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010).The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD ), which is caused by mutation in the PLP1 gene (OMIM ). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Severe global developmental delay

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

Patients with Abnormal facial shape and Severe global developmental delay. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dystonia Nystagmus Growth delay Generalized hypotonia Absent speech Intellectual disability, mild Agenesis of corpus callosum Motor delay Ataxia Cognitive impairment Delayed speech and language development Ventriculomegaly

Rare Symptoms - Less than 30% cases


Muscular hypotonia of the trunk Pachygyria Failure to thrive Spastic tetraparesis Tetraparesis Rigidity Coarse facial features Dysarthria Muscular hypotonia Myoclonus Partial agenesis of the corpus callosum Lissencephaly Heterotopia Athetosis Sloping forehead Obesity Hypoplasia of the corpus callosum Polymicrogyria Autistic behavior Low-set, posteriorly rotated ears Coloboma Corpus callosum atrophy Camptodactyly of finger Short philtrum Severe failure to thrive Rotary nystagmus Small for gestational age Toe syndactyly Arachnodactyly Ankle clonus Decreased muscle mass Neonatal hypotonia Short neck Microphthalmia Behavioral abnormality Long fingers Downslanted palpebral fissures Cataract Cleft palate Progressive spastic paraparesis Hypertelorism Subependymal nodules Type I lissencephaly Agyria Microphallus Abnormality of neuronal migration Spontaneous abortion Intellectual disability, profound Interphalangeal joint contracture of finger Global brain atrophy Central apnea Projectile vomiting Paraparesis Clonus Spastic paraparesis Leukodystrophy Progressive neurologic deterioration Hypsarrhythmia Neuronal loss in central nervous system Focal-onset seizure Premature birth Brain atrophy Gliosis Arthrogryposis multiplex congenita Narrow forehead Abnormal pyramidal sign Small face EEG abnormality Kyphoscoliosis Cerebral atrophy Vomiting Visual impairment Progressive flexion contractures Flexion contracture Bullet-shaped distal phalanx of the hallux Abnormality iris morphology Abnormal oral frenulum morphology Hand clenching Sudanophilic leukodystrophy CNS hypomyelination Rapid neurologic deterioration Oligosacchariduria Bulbous nose Limb hypertonia Cerebral calcification Poor speech Abnormality of the cerebral white matter Encephalopathy Sensorineural hearing impairment Hearing impairment Inferior vermis hypoplasia Adducted thumb Aganglionic megacolon Cerebellar hypoplasia Hydrocephalus Muscle weakness Dilation of lateral ventricles Cortical gyral simplification Abnormal myelination Hypertonia Hyperreflexia Anterior plagiocephaly Overweight Poor eye contact Polyphagia Absence seizures Stereotypy Status epilepticus Generalized-onset seizure Delayed myelination Unsteady gait Facial asymmetry Tremor Leukoencephalopathy Abnormal CNS myelination Postnatal growth retardation Short stature Micropenis Ptosis Macrodontia Short 5th finger Cubitus valgus Severe muscular hypotonia Low posterior hairline Short foot Small hand Clinodactyly Short nose Epicanthus High palate Aspartylglucosaminuria Focal white matter lesions Vacuolated lymphocytes Visceromegaly Thickened calvaria Exotropia Clumsiness Progressive cerebellar ataxia Inability to walk Generalized tonic-clonic seizures Abnormality of metabolism/homeostasis Cerebellar atrophy Intellectual disability, severe Abnormality of the skeletal system Nonprogressive encephalopathy Doll-like facies Diffuse cerebral sclerosis



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