Abnormal facial shape, and Abnormality of extrapyramidal motor function

Diseases related with Abnormal facial shape and Abnormality of extrapyramidal motor function

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


Top matches:

Low match DIHYDROPYRIMIDINASE DEFICIENCY; DPYSD

DPYS deficiency is an autosomal recessive inborn error of pyrimidine metabolism. Less than a dozen affected individuals have been reported. About half are asymptomatic, but rare patients with neurologic abnormalities have been reported. It is unclear whether or not these abnormalities are related to the enzymatic defect. Affected individuals theoretically could have severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), although no cases have been reported (Hamajima et al., 1998; van Kuilenburg et al., 2007).See also dihydropyrimidine dehydrogenase deficiency (OMIM ), a similar disorder.

DIHYDROPYRIMIDINASE DEFICIENCY; DPYSD Is also known as dihydropyrimidinuria, dpys deficiency, dph deficiency;dihydropyrimidinase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay


SOURCES: SCTID GARD ORPHANET OMIM MONDO UMLS

More info about DIHYDROPYRIMIDINASE DEFICIENCY; DPYSD

Low match SPINOCEREBELLAR ATAXIA 13; SCA13

Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.

SPINOCEREBELLAR ATAXIA 13; SCA13 Is also known as ;sca13

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: SCTID ORPHANET MESH OMIM UMLS DOID GARD MONDO

More info about SPINOCEREBELLAR ATAXIA 13; SCA13

Low match 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN

3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (OMIM ).

3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN Is also known as 3-methylglutaconic aciduria, type vii;mgca7;3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome; mga7

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: DOID EFO ORPHANET UMLS OMIM MONDO

More info about 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN

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Low match CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1

Cerebral creatine deficiency syndrome-1 is an X-linked disorder of creatine (Cr) transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. It has a prevalence of 0.3 to 3.5% in males. Carrier females may show mild neuropsychologic impairment (summary by van de Kamp et al., 2011). Genetic Heterogeneity of Cerebral Creatine Deficiency SyndromeSee also CCDS2 (OMIM ), caused by mutation in the GAMT gene (OMIM ) on chromosome 19p13, and CCDS3 (OMIM ), caused by mutation in the AGAT gene (GATM ) on chromosome 15q21.

CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 Is also known as creatine deficiency syndrome, x-linked, creatine transporter defect, mental retardation, x-linked, with seizures, short stature, and midface hypoplasia, mental retardation, x-linked, with creatine transport deficiency;creatine transporter deficiency; slc6a8 deficiency

Related symptoms:

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


SOURCES: GARD SCTID MESH DOID OMIM NCIT ORPHANET MONDO UMLS

More info about CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36; EIEE36

Early infantile epileptic encephalopathy-36 is an X-linked dominant neurodevelopmental disorder characterized by onset of seizures in infancy followed by delayed psychomotor development. Some patients may have dysmorphic features. Only females with this specific phenotype have been reported (summary by Dimassi et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see {308350}.For a discussion of the classification of CDGs, see CDG1A (OMIM ).

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36; EIEE36 Is also known as ;cdg syndrome type is; cdg-is; cdg1s; congenital disorder of glycosylation type 1s; congenital disorder of glycosylation type is

Related symptoms:

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


SOURCES: ORPHANET MONDO OMIM UMLS GARD SCTID

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36; EIEE36

Low match WOODHOUSE-SAKATI SYNDROME

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome, extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia;diabetes-hypogonadism-deafness-intellectual disability syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis


SOURCES: GARD SCTID ORPHANET OMIM MONDO UMLS MESH

More info about WOODHOUSE-SAKATI SYNDROME

Low match GLUTARIC ACIDEMIA I; GA1

Glutaric acidemia I is an autosomal recessive metabolic disorder characterized by gliosis and neuronal loss in the basal ganglia and a progressive movement disorder that usually begins during the first year of life (Goodman et al., 1995).Hedlund et al. (2006) provided a detailed review of the clinical and biochemical aspects of glutaric acidemia type I.

GLUTARIC ACIDEMIA I; GA1 Is also known as glutaric aciduria i, ga i, glutaryl-coa dehydrogenase deficiency;ga1; gcdhd; glutaric acidemia type 1; glutaric aciduria type 1; glutaryl-coenzyme a dehydrogenase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: GARD NCIT ORPHANET MONDO ICD10 MESH OMIM

More info about GLUTARIC ACIDEMIA I; GA1

Low match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: UMLS MONDO OMIM

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), and cblF (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE Is also known as methylmalonic acidemia and homocystinuria, cblc type, methylmalonic aciduria and homocystinuria, vitamin b12-responsive, vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: NCIT ORPHANET MONDO GARD DOID OMIM

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE

Low match PRIMROSE SYNDROME; PRIMS

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

PRIMROSE SYNDROME; PRIMS Is also known as ossified ear cartilages with mental deficiency, muscle wasting, and bony changes;primrose syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: ORPHANET SCTID MESH GARD OMIM UMLS MONDO

More info about PRIMROSE SYNDROME; PRIMS

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormality of extrapyramidal motor function

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

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

Common Symptoms - More than 50% cases


Abnormal pyramidal sign

Uncommon Symptoms - Between 30% and 50% cases


Autosomal recessive inheritance

Common Symptoms - More than 50% cases


Gait disturbance

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Microcephaly Cognitive impairment Delayed speech and language development Hearing impairment Motor delay Tics Nystagmus Muscular hypotonia Abnormality of movement Cataract Myopathy Dystonia Hypothyroidism Developmental regression Athetosis Choreoathetosis Short stature Intellectual disability, severe Feeding difficulties in infancy Growth delay Clumsiness Rigidity Babinski sign Peripheral neuropathy Hydrocephalus Spasticity Flexion contracture Cardiomyopathy Macrocephaly Recurrent infections Anemia Attention deficit hyperactivity disorder Scoliosis Diabetes mellitus Delayed myelination Long face Acidosis Pes cavus Midface retrusion Behavioral abnormality Failure to thrive Nevus Infantile onset Hypoplasia of the corpus callosum Metabolic acidosis Intellectual disability, mild Hypogonadism Dysarthria Prominent nasal bridge Dysphagia Gait ataxia Tremor Bradykinesia Hypergonadotropic hypogonadism High forehead

Rare Symptoms - Less than 30% cases


Joint hypermobility Sparse scalp hair Hypermetropia Broad forehead Irritability Dehydration Aggressive behavior Truncal obesity Mandibular prognathia X-linked recessive inheritance Thrombocytopenia Hemiplegia Vomiting Aciduria Malar flattening Abnormality of metabolism/homeostasis Oxycephaly Hypertonia Synophrys Dementia Retinopathy Slurred speech Hypertelorism Psychosis Bilateral cryptorchidism Micropenis Edema Downslanted palpebral fissures Protruding ear Sensorineural hearing impairment Short chin Autism Encephalopathy Long philtrum Mental deterioration Anteverted nares Congenital cataract Neoplasm Pigmentary retinopathy Sparse hair Triangular face Cryptorchidism Sensory neuropathy Hepatomegaly Polyneuropathy Visual impairment Low-set ears Micrognathia Decreased testicular size Macrotia Deeply set eye Ptosis Optic atrophy Hyperactivity Cerebral atrophy Cerebral palsy Urinary incontinence Abnormal cerebellum morphology Dysmetria Intellectual disability, moderate Myoclonus Cerebellar atrophy Hyperreflexia Clonus Autosomal dominant inheritance Morphological abnormality of the pyramidal tract Plagiocephaly Hip dysplasia Dyskinesia Short distal phalanx of finger Lethargy Abnormality of the cerebral white matter Diarrhea Neonatal hypotonia Difficulty walking Neutropenia Opisthotonus Pica Thick lower lip vermilion Renal insufficiency Respiratory insufficiency Basilar impression Hypertension Torus palatinus Muscle weakness Gastrointestinal stroma tumor Fatigue Thyroid nodule Long neck Multinodular goiter Nodular goiter Neurodegeneration Chronic lung disease Low hanging columella Shuffling gait Abnormality of cardiovascular system morphology Sporadic Abnormality of lipid metabolism Retinal degeneration Nephropathy Hemolytic anemia Hepatic steatosis Abnormality of skin pigmentation Unsteady gait Malabsorption Lower limb muscle weakness Smooth philtrum Narrow iliac wings Depressivity Hip dislocation Skin rash Weight loss Proteinuria Arthritis Ectopic calcification Reduced visual acuity Absent axillary hair Cerebral cortical atrophy Congestive heart failure Glioma Misalignment of teeth Hypotelorism Limb undergrowth Apraxia Sloping forehead Increased size of the mandible Thickened skin Osteolysis Gynecomastia Renal hypoplasia Epidermal acanthosis Renal agenesis Posterior scalloping of vertebral bodies Convex nasal ridge Broad nasal tip Falls Dilated cardiomyopathy Otitis media Calcification of the auricular cartilage Cutaneous photosensitivity Insulin resistance Increased circulating gonadotropin level Spastic paraparesis Cerebellar vermis atrophy High pitched voice Motor tics Absent facial hair Cortical gyral simplification Long nose Knee flexion contracture Unilateral renal agenesis Ectopic kidney Lymphopenia Sensory axonal neuropathy Broad-based gait Postural tremor Dysdiadochokinesis Goiter Bone marrow hypocellularity Acanthosis nigricans Abnormal lung morphology Paresthesia Hematuria Cerebral calcification Decreased methylcobalamin Genu valgum Narrow chest Anonychia Basal ganglia calcification Sparse body hair Ankle clonus Hip contracture Congenital hypothyroidism Mixed hearing impairment Megaloblastic bone marrow Decreased adenosylcobalamin Striae distensae Hyperhomocystinemia Hemolytic-uremic syndrome Urogenital fistula Chronic hemolytic anemia Abnormality of macular pigmentation Atrophy of the spinal cord Self-injurious behavior Decreased methionine synthase activity Gastritis Kyphosis Osteopenia Narrow mouth Brachycephaly Osteoporosis Agenesis of corpus callosum Areflexia Pectus excavatum Microphthalmia Abnormality of the skeletal system Vitamin B12 deficiency Skeletal muscle atrophy Milia Thyroglossal cyst Cystathioninemia Cystathioninuria Small for gestational age Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Methylmalonic acidemia Right ventricular failure Conductive hearing impairment Hypoplasia of the maxilla Distal amyotrophy Polar cataract Downturned corners of mouth Atherosclerosis Amblyopia Anorexia Abnormal form of the vertebral bodies Posterior polar cataract Melanocytic nevus Bone cyst Recurrent urinary tract infections Abnormality of retinal pigmentation Pancytopenia Pulmonary arterial hypertension Abnormal palate morphology Memory impairment Paraparesis Confusion Schizophrenia Poor coordination Homocystinuria Abnormal retinal morphology Cor pulmonale Methylmalonic aciduria Ethylmalonic aciduria Irregular vertebral endplates Myelopathy Cystinuria Megaloblastic anemia Thromboembolism Disproportionate tall stature Broad face Restlessness Thoracic kyphosis Progressive gait ataxia Apathy Generalized osteoporosis Dystrophic fingernails Ectopia lentis Metatarsus adductus Diffuse hepatic steatosis Decreased serum insulin-like growth factor 1 Short philtrum Stereotypy Self-mutilation Chronic constipation Myopathic facies Language impairment Mask-like facies Redundant skin Cachexia External ophthalmoplegia Narrow face Ileus Exotropia Aganglionic megacolon Tall stature Open mouth Chorea Parkinsonism Ophthalmoplegia Autistic behavior Speech apraxia Impaired social interactions Muscular hypotonia of the trunk Abnormal bleeding Adducted thumb Microretrognathia Horizontal nystagmus Decreased body weight Epileptic encephalopathy Cortical visual impairment Hypsarrhythmia X-linked dominant inheritance Sleep disturbance Urethral stenosis Small hand EEG abnormality Coarse facial features Arrhythmia Underfolded superior helices Poor hand-eye coordination Red eye Abnormality of creatine metabolism Duodenal ulcer Joint hyperflexibility Absent speech Global brain atrophy Slow progression Hyperactive deep tendon reflexes Urinary urgency Impaired vibratory sensation Torticollis Limb ataxia Optic disc pallor Progressive cerebellar ataxia Postural instability Reduced dihydropyrimidine dehydrogenase activity Titubation Extrapyramidal dyskinesia Intractable diarrhea Reduced consciousness/confusion Excessive daytime somnolence Cholestasis Short phalanx of finger Cirrhosis Anal atresia Talipes equinovarus Difficulty running Limb dysmetria Constipation Neuronal loss in central nervous system Congenital neutropenia Upper motor neuron dysfunction Dysgraphia Dyslexia Myeloid leukemia Acute myeloid leukemia Nuclear cataract Myelodysplasia Brain atrophy Impaired distal vibration sensation Increased serum lactate Gliosis Leukemia Respiratory failure Progressive Congenital onset Impaired visuospatial constructive cognition Upgaze palsy Jerky ocular pursuit movements Poor head control Infantile spasms Postnatal growth retardation Encephalitis Malignant hyperthermia Generalized dystonia Ketosis Ketonuria Malnutrition Bulbar palsy Spastic diplegia Intracranial hemorrhage Leukoencephalopathy Dilation of lateral ventricles Exercise intolerance Joint dislocation Inability to walk Large fontanelles Migraine Vertigo Paralysis Abnormality of eye movement Stroke Abnormality of the retinal vasculature Decreased plasma carnitine Respiratory tract infection Strabismus Severe short stature Clinodactyly Immunodeficiency Hernia Obesity Inguinal hernia Ventriculomegaly Intrauterine growth retardation Symmetrical progressive peripheral demyelination Cerebral ischemia Subdural hemorrhage Glutaric acidemia Macrocephaly at birth Infantile encephalopathy Glutaric aciduria Retinal hemorrhage Acute encephalopathy Overbite Fasting hypoglycemia Neurological speech impairment Hypoglycemia Poor eye contact Amenorrhea Hyperlipidemia Purpura Hypogonadotrophic hypogonadism Hallucinations Myocardial infarction Fine hair Primary amenorrhea Bilateral sensorineural hearing impairment Dental malocclusion Flat occiput Prominent nose Delayed puberty Arthrogryposis multiplex congenita Camptodactyly Alopecia Frontal bossing Abnormality of lateral ventricle Abnormality of brain morphology Type I transferrin isoform profile Premature ovarian insufficiency Aplasia/Hypoplasia of the eyebrow Hyperhidrosis Progressive extrapyramidal movement disorder Headache Prominent forehead Dilatation Coma Fever Progressive alopecia Abnormal T-wave Hypoplasia of the fallopian tube Abnormal spermatogenesis Sparse eyebrow Streak ovary Increased thyroid-stimulating hormone level Decreased serum estradiol Decreased serum testosterone level Anodontia Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Superiorly displaced ears



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Microphthalmia and Falls, related diseases and genetic alterations Abnormality of the skeletal system and Dyskinesia, related diseases and genetic alterations Feeding difficulties and Bradycardia, related diseases and genetic alterations Optic atrophy and Lumbar hyperlordosis, related diseases and genetic alterations Epicanthus and Dyspnea, related diseases and genetic alterations