Abnormal facial shape, and Dyskinesia

Diseases related with Abnormal facial shape and Dyskinesia

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


Top matches:

Low match MENTAL RETARDATION, X-LINKED 102; MRX102


An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 102; MRX102

Low match DIHYDROPYRIMIDINURIA


Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.

DIHYDROPYRIMIDINURIA Is also known as dihydropyrimidinase deficiency|dph deficiency|dihydropyrimidinuria|dpys deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINURIA

Low match X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-MOVEMENT DISORDER SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-MOVEMENT DISORDER SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

Low match NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD


NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD Is also known as mrd8, formerly|mental retardation, autosomal dominant 8, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD

Low match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2


Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

Low match ASPARTYLGLUCOSAMINURIA


Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1B


Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

PSEUDOHYPOPARATHYROIDISM TYPE 1B Is also known as php ib

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1B

Low match GLUTARYL-COA DEHYDROGENASE DEFICIENCY


Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

Low match MARINESCO-SJÖGREN SYNDROME


Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Dyskinesia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Scoliosis Feeding difficulties Autistic behavior Nystagmus Encephalopathy Failure to thrive Cerebral atrophy Visual impairment Hypoplasia of the corpus callosum Muscular hypotonia Deeply set eye Abnormality of the cerebral white matter Prominent forehead Inability to walk Dystonia Ventriculomegaly Delayed speech and language development Aggressive behavior Absent speech Hearing impairment Strabismus Ptosis High palate Hyperactivity Epicanthus Neurological speech impairment

Rare Symptoms - Less than 30% cases


Smooth philtrum Cerebral visual impairment Cataract Osteopenia Cognitive impairment Short stature Bulbous nose Thick eyebrow Cerebellar atrophy Self-injurious behavior Choreoathetosis Infantile muscular hypotonia Hepatomegaly Abnormality of the dentition Profound global developmental delay Global brain atrophy Pes planus Pectus carinatum Myopathy Abnormality of movement Abnormality of eye movement Intellectual disability, moderate Gait ataxia Constipation Short neck Intellectual disability, severe Rigidity EEG abnormality Anteverted nares Infantile spasms Behavioral abnormality Autism Broad-based gait Precocious puberty Cortical dysplasia Macrocephaly Acidosis Feeding difficulties in infancy Abnormal pyramidal sign Metabolic acidosis Brain atrophy Hip dysplasia Plagiocephaly Short metacarpal Sleep disturbance Irritability Depressed nasal bridge Brachydactyly Joint laxity Hyporeflexia Ataxia Abdominal symptom Joint dislocation Migraine Aciduria Neuronal loss in central nervous system Laryngeal dystonia Dehydration Motor delay Abnormality of extrapyramidal motor function Tetany Large fontanelles Exercise intolerance Autoimmune antibody positivity Cerebral palsy Delayed myelination Leukoencephalopathy Hyperkinesis Encephalitis Hemiplegia Intracranial hemorrhage Cardiomyopathy Spastic diplegia Tremor Elevated circulating parathyroid hormone level Malnutrition Opisthotonus Edema Gliosis Vomiting Hypoglycemia Headache Pituitary resistance to thyroid hormone Dilatation Fever Diaphyseal sclerosis Dementia Hypocalcemic tetany Myoclonic spasms Hyperhidrosis Hypocalcemic seizures Increased bone density with cystic changes Low urinary cyclic AMP response to PTH administration Abnormal cerebellum morphology Bulbar palsy Cortical subperiosteal resorption of humeral metaphyses Developmental regression Respiratory tract infection Ectopic calcification Paralysis Pseudohypoparathyroidism Stroke Vertigo Dysphagia Coma Gait disturbance Elevated serum creatine phosphokinase Malignant hyperthermia Hypergonadotropic hypogonadism Dysphonia Abnormality of the metacarpal bones Sandal gap Type I diabetes mellitus Coxa valga Muscle stiffness Sensorimotor neuropathy Cubitus valgus Short thumb Limb ataxia Progressive muscle weakness Hypertrichosis Specific learning disability Decreased antibody level in blood Progressive cerebellar ataxia Short metatarsal Congenital muscular dystrophy Short palm Muscle flaccidity Aplasia/Hypoplasia involving the skeletal musculature Abnormal lactate dehydrogenase activity Cerebellar cortical atrophy Metatarsus valgus Abnormal levels of creatine kinase in blood Abnormality of the cerebellar vermis Muscle fiber necrosis Myopathic facies Autophagic vacuoles Avascular necrosis of the capital femoral epiphysis Mild global developmental delay Abnormality of finger Centrally nucleated skeletal muscle fibers Rimmed vacuoles External genital hypoplasia Microcornea Synophrys Generalized dystonia Retinal hemorrhage Subdural hemorrhage Ketonemia Symmetrical progressive peripheral demyelination Macrocephaly at birth Glutaric acidemia Glutaric aciduria Infantile encephalopathy Flexion contracture Acute encephalopathy Fasting hypoglycemia Decreased plasma carnitine Dilation of lateral ventricles Abnormality of the retinal vasculature Cerebral ischemia Ketonuria Muscle weakness Peripheral neuropathy Congenital cataract Cerebellar hypoplasia Muscular dystrophy Hip dislocation Kyphoscoliosis Cerebral cortical atrophy Hypogonadism Severe short stature Hyperphosphatemia Dysarthria Areflexia Recurrent infections Kyphosis Hypertonia Abnormality of the skeletal system Optic atrophy Skeletal muscle atrophy Calcinosis Thick vermilion border Hyperparathyroidism Progressive microcephaly Myoclonus Abnormality of the eye Joint hypermobility Tetraplegia Chorea Febrile seizures Epileptic encephalopathy Generalized-onset seizure Hypotelorism Spastic tetraplegia Hypsarrhythmia Status epilepticus Tetraparesis Involuntary movements Spastic tetraparesis Hyperreflexia Focal impaired awareness seizure Disproportionate tall stature Atonic seizures Bruxism Oculogyric crisis Inappropriate crying Low-set ears Intrauterine growth retardation Downslanted palpebral fissures Frontal bossing Posteriorly rotated ears Brachycephaly High forehead Thin upper lip vermilion Blindness Pain Short philtrum Reduced consciousness/confusion Cleft palate Cleft lip Cleft upper lip Decreased body weight Growth delay Talipes equinovarus Diarrhea Lethargy Anal atresia Cirrhosis Short distal phalanx of finger Cholestasis Short phalanx of finger Excessive daytime somnolence Morphological abnormality of the pyramidal tract Recurrent hand flapping Intractable diarrhea Extrapyramidal dyskinesia Reduced dihydropyrimidine dehydrogenase activity Abnormality of skin pigmentation Ventricular hypertrophy Midface retrusion Macrotia Telecanthus Wide mouth High, narrow palate Thick lower lip vermilion Sparse eyebrow Delayed ability to walk Nasogastric tube feeding Muscular hypotonia of the trunk Prominent nasal bridge Prolonged QT interval Obesity Gingival overgrowth Abnormal vertebral morphology Chronic otitis media Thickened calvaria Abnormality of the ulna Macroorchidism Beaking of vertebral bodies Abnormal cortical bone morphology Large face Vascular skin abnormality Anterior beaking of lumbar vertebrae Abnormality of amino acid metabolism Aspartylglucosaminuria Renal insufficiency Depressivity Malabsorption Dyspnea Anxiety Paresthesia Delayed eruption of teeth Muscle cramps Full cheeks Chest pain Round face Growth hormone deficiency Hypoplasia of dental enamel Increased bone mineral density Hypocalcemia Conjunctivitis Reduced bone mineral density Macroglossia Carious teeth Broad forehead Facial hypotonia Severe global developmental delay Poor speech Small hand Tapered finger Triangular face Prominent nose Esotropia Intellectual disability, profound Open mouth Severe muscular hypotonia Tented upper lip vermilion Cachexia Failure to thrive in infancy Hip contracture Generalized tonic seizures Microtia Appendicular hypotonia Profound static encephalopathy Hypertelorism Wide nasal bridge Splenomegaly Short nose Inguinal hernia Delayed skeletal maturation Recurrent respiratory infections Mandibular prognathia Coarse facial features Umbilical hernia Arthritis Joint stiffness Abnormal aldolase level



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Hyperkeratosis, related diseases and genetic alterations Pain and EEG abnormality, related diseases and genetic alterations Strabismus and Anxiety, related diseases and genetic alterations Failure to thrive and Generalized seizures, related diseases and genetic alterations Sensorineural hearing impairment and Bulbous nose, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more