Abnormal facial shape, and Abnormality of movement

Diseases related with Abnormal facial shape and Abnormality of movement

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


Top matches:

Low 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

Low match RENAL HYPODYSPLASIA/APLASIA 2; RHDA2


Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT ), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014).For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (OMIM ).

Related symptoms:

  • Falls
  • Pulmonary hypoplasia
  • Renal agenesis
  • Renal dysplasia
  • Redundant skin


SOURCES: OMIM MENDELIAN

More info about RENAL HYPODYSPLASIA/APLASIA 2; RHDA2

Low match MENTAL RETARDATION, X-LINKED 101; MRX101


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 101; MRX101

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Other less relevant matches:

Low match MENTAL RETARDATION, X-LINKED 72; MRX72


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Macrocephaly
  • Obesity


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 72; MRX72

Low match MENTAL RETARDATION, X-LINKED 107; MRX107


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Abnormal facial shape
  • Behavioral abnormality
  • Upslanted palpebral fissure


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 107; MRX107

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20


Combined oxidative phosphorylation defect type 20 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20 Is also known as coxpd20

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20

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 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

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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormality of movement

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

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

Uncommon Symptoms - Between 30% and 50% cases


Long face Autistic behavior

Rare Symptoms - Less than 30% cases


Ventriculomegaly Generalized-onset seizure Microcephaly Hypoplasia of the corpus callosum Delayed speech and language development Feeding difficulties Growth delay Stereotypy Autism Obesity Motor delay Severe global developmental delay Macrotia Cognitive impairment Absent speech Myoclonus Dilation of lateral ventricles Poor eye contact Spasticity Anterior plagiocephaly Overweight Epileptic encephalopathy Absence seizures Polyphagia Generalized myoclonic seizures Status epilepticus Cerebral palsy Delayed myelination Overlapping toe Hyperreflexia Inability to walk Pachygyria Partial agenesis of the corpus callosum Hypertelorism Cortical gyral simplification Long philtrum Unsteady gait Heterotopia Midface retrusion Limb hypertonia Sloping forehead Polymicrogyria Agenesis of corpus callosum Hypertonia Cerebral cortical atrophy Thin upper lip vermilion Lissencephaly Heterotaxy Facial asymmetry Dolichocephaly Tremor Dystonia Falls Pulmonary hypoplasia Renal agenesis Renal dysplasia Redundant skin Unilateral renal agenesis Bilateral renal agenesis Potter facies Strabismus Protruding ear Poor speech Macrocephaly Behavioral abnormality Progressive external ophthalmoplegia Aggressive behavior External ophthalmoplegia Ophthalmoplegia Ptosis Muscle weakness Ataxia Mutism Abnormal heart morphology Upslanted palpebral fissure Atrial septal defect Short stature Narrow philtrum Narrow face Smooth philtrum Mandibular prognathia Delayed ability to walk



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Polycystic kidney dysplasia, related diseases and genetic alterations Melanoma and Cone/cone-rod dystrophy, related diseases and genetic alterations Hepatomegaly and Narrow mouth, related diseases and genetic alterations Hydrocephalus and Joint hypermobility, related diseases and genetic alterations Hypertelorism and Attention deficit hyperactivity disorder, related diseases and genetic alterations

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