Abnormal facial shape, and Abnormality of mitochondrial metabolism

Diseases related with Abnormal facial shape and Abnormality of mitochondrial metabolism

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


Top matches:

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5

Related symptoms:

  • Autosomal recessive inheritance
  • Pica
  • Abnormal facial shape
  • Cognitive impairment
  • Epicanthus


SOURCES: MONDO OMIM DOID UMLS

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26 Is also known as ;coxpd26

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET UMLS OMIM EFO MONDO

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26

Low match 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD

3-Hydroxyisobutyrl-CoA hydrolase deficiency is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by Ferdinandusse et al., 2013).

3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD Is also known as beta-hydroxyisobutyryl coa deacylase deficiency, hibch deficiency, methacrylic aciduria, methacrylic acid toxicity, valine metabolic defect;hibch deficiency; methacrylic aciduria; valine metabolic defect

Related symptoms:

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


SOURCES: MESH SCTID GARD OMIM ORPHANET MONDO

More info about 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD

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Other less relevant matches:

Low match LEIGH SYNDROME; LS

Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system, including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas of the central nervous system are involved. The most common underlying cause is a defect in oxidative phosphorylation (Dahl, 1998).Leigh syndrome may be a feature of a deficiency of any of the mitochondrial respiratory chain complexes: complex I deficiency (OMIM ), complex II deficiency (OMIM ), complex III deficiency (OMIM ), complex IV deficiency (cytochrome c oxidase; {220110}), or complex V deficiency (OMIM ).

LEIGH SYNDROME; LS Is also known as necrotizing encephalopathy, infantile subacute, of leigh;sne

Related symptoms:

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


SOURCES: ORPHANET SCTID ICD10 OMIM UMLS

More info about LEIGH SYNDROME; LS

Low match HAREL-YOON SYNDROME; HAYOS

Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

HAREL-YOON SYNDROME; HAYOS Is also known as ;harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MONDO UMLS

More info about HAREL-YOON SYNDROME; HAYOS

Low match HYPOTONIA-CYSTINURIA SYNDROME

Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

HYPOTONIA-CYSTINURIA SYNDROME Is also known as cystinuria with mitochondrial disease, homozygous 2p16 deletion syndrome, formerly;hcs

Related symptoms:

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


SOURCES: UMLS ORPHANET OMIM SCTID

More info about HYPOTONIA-CYSTINURIA SYNDROME

Low match BARTH SYNDROME; BTHS

Barth syndrome (BTHS) is an X-linked disease conventionally characterized by dilated cardiomyopathy (CMD) with endocardial fibroelastosis (EFE), a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Features of the disease that are less well known include hypertrophic cardiomyopathy, isolated left ventricular noncompaction (LVNC), ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood (summary by Steward et al., 2010).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

BARTH SYNDROME; BTHS Is also known as cardioskeletal myopathy with neutropenia and abnormal mitochondria, 3-methylglutaconic aciduria, type ii;mgca2, mga, type ii;mga2;3-methylglutaconic aciduria type 2; bths; cardioskeletal myopathy with neutropenia and abnormal mitochondria; cardioskeletal myopathy-neutropenia syndrome; mga2; x-linked cardioskeletal myopathy and neutropenia

Related symptoms:

  • Short stature
  • Pica
  • Growth delay
  • Failure to thrive
  • Motor delay


SOURCES: NCIT ORPHANET GARD DOID SCTID MONDO UMLS OMIM MESH ICD10

More info about BARTH SYNDROME; BTHS

Low match FRIEDREICH ATAXIA 1; FRDA

Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty. It is one of the most common forms of autosomal recessive ataxia, occurring in about 1 in 50,000 individuals. Other variable features include visual defects, scoliosis, pes cavus, and cardiomyopathy (review by Delatycki et al., 2000).Pandolfo (2008) provided an overview of Friedreich ataxia, including pathogenesis, mutation mechanisms, and genotype/phenotype correlation. Genetic Heterogeneity of Friedreich AtaxiaAnother locus for Friedreich ataxia has been mapped to chromosome 9p (FRDA2 ).

FRIEDREICH ATAXIA 1; FRDA Is also known as frda1, fa;fa; frda

Related symptoms:

  • Autosomal recessive inheritance
  • Pica
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: OMIM ORPHANET UMLS

More info about FRIEDREICH ATAXIA 1; FRDA

Low match ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1

Ullrich congenital muscular dystrophy is characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis. Some patients manifest at birth and never achieve independent ambulation, whereas others maintain ambulation into adulthood. Progressive scoliosis and deterioration of respiratory function is a typical feature (summary by Kirschner, 2013). Genetic Heterogeneity of Ullrich Congenital Muscular DystrophyUCMD2 (OMIM ) is caused by mutation in the COL12A1 gene (OMIM ) on chromosome 6q.

ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1 Is also known as ullrich congenital muscular dystrophy;ucmd, muscular dystrophy, scleroatonic, ullrich disease, ullrich scleroatonic muscular dystrophy;scleroatonic muscular dystrophy; ucmd; ullrich disease

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM SCTID UMLS MONDO ORPHANET

More info about ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1

Low match MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy, multicore myopathy, multiminicore myopathy multicore myopathy with external ophthalmoplegia, multiminicore disease with external ophthalmoplegia;

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Pica
  • Scoliosis
  • Hypertelorism


SOURCES: GARD NCIT MONDO ORPHANET UMLS OMIM

More info about MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

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

Symptoms // Phenotype % cases
Autosomal recessive inheritance Very Common - Between 80% and 100% cases
Myopathy Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Pica Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Growth delay Global developmental delay Motor delay Increased serum lactate Cardiomyopathy Acidosis Muscle weakness Lactic acidosis Ataxia Infantile onset Spasticity Seizures Edema Hypertrophic cardiomyopathy Scoliosis Muscular hypotonia Nystagmus Facial palsy Optic atrophy Aciduria Decreased fetal movement Dystonia Talipes equinovarus Muscular hypotonia of the trunk Ophthalmoplegia Respiratory failure Respiratory insufficiency Gait disturbance Proximal muscle weakness Intellectual disability Ptosis Metabolic acidosis Peripheral neuropathy Areflexia Epicanthus Neonatal hypotonia Feeding difficulties in infancy Hyperreflexia

Rare Symptoms - Less than 30% cases


Micrognathia Arrhythmia Congestive heart failure Fatigue Abnormality of the foot Pallor Progressive Muscular dystrophy Generalized muscle weakness Deeply set eye Peripheral axonal neuropathy Dysphagia Esotropia Skeletal muscle atrophy Dysarthria Optic disc pallor Mandibular prognathia Nevus Increased variability in muscle fiber diameter Growth hormone deficiency Arthrogryposis multiplex congenita Type 1 muscle fiber predominance Pneumonia Tented upper lip vermilion Frontal bossing Kyphosis Macrotia Short stature Short neck Joint laxity High palate Gait ataxia Flexion contracture Incoordination Dolichocephaly Autosomal dominant inheritance Inability to walk Mitochondrial myopathy Myopathic facies Strabismus Cryptorchidism 3-Methylglutaconic aciduria Cerebral atrophy Babinski sign Encephalopathy Exercise intolerance Ketosis Dysmetria Developmental regression Neurodegeneration Truncal ataxia Decreased activity of the pyruvate dehydrogenase complex Cognitive impairment Vomiting Round face Reduced tendon reflexes Hyperactive deep tendon reflexes Ventricular arrhythmia Visual field defect Sensory axonal neuropathy Impaired vibratory sensation Decreased motor nerve conduction velocity Hammertoe Involuntary movements Rigidity Palpitations Spastic gait Peripheral demyelination Intention tremor Paraparesis Spastic paraparesis Limb ataxia Lower limb spasticity Protruding ear Hip dislocation Left ventricular hypertrophy Aortic valve stenosis Incomprehensible speech Elevated serum creatine phosphokinase Abnormality of visual evoked potentials Decreased pyruvate carboxylase activity Cerebellar cortical atrophy Diabetic ketoacidosis Abnormal saccadic eye movements Scarring Hand muscle atrophy Abnormal echocardiogram Poor fine motor coordination Decreased amplitude of sensory action potentials Increased reactive oxygen species production Mitochondrial malic enzyme reduced Abnormal EKG Gait imbalance Hyperhidrosis Subvalvular aortic stenosis Hemifacial hypertrophy Temporal optic disc pallor Impaired proprioception Cervical spinal cord atrophy Impaired visually enhanced vestibulo-ocular reflex Areflexia of lower limbs Thoracic scoliosis Muscular subvalvular aortic stenosis Urinary bladder sphincter dysfunction Optic neuropathy Hyperkeratosis Decreased sensory nerve conduction velocity Slender build Pachygyria Akinesia Severe postnatal growth retardation Difficulty running Cystic hygroma Centrally nucleated skeletal muscle fibers Pterygium Bilateral cryptorchidism Mask-like facies Scrotal hypoplasia Facial diplegia External ophthalmoplegia Hydrops fetalis Bradycardia Narrow face Cyanosis Webbed neck Single transverse palmar crease Pulmonary hypoplasia Functional respiratory abnormality Distal arthrogryposis Respiratory tract infection Type 1 muscle fiber atrophy Rectus femoris muscle atrophy Frog-leg posture Type 1 and type 2 muscle fiber minicore regions Sternocleidomastoid amyotrophy Abnormality of muscle morphology Muscle fiber hypertrophy Internally nucleated skeletal muscle fibers Minicore myopathy Nemaline bodies Generalized limb muscle atrophy Increased nuchal translucency Exercise-induced myalgia Axial muscle weakness Increased connective tissue Fetal akinesia sequence Shoulder girdle muscle weakness Neonatal onset Prominent nasal bridge Kyphoscoliosis Frequent falls Congenital muscular dystrophy Recurrent lower respiratory tract infections Slender finger Spinal rigidity Multiple joint contractures Mildly elevated creatine phosphokinase Generalized amyotrophy Difficulty climbing stairs Adducted thumb Limb-girdle muscular dystrophy Lissencephaly Torticollis EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Abnormal palate morphology Knee flexion contracture Congenital hip dislocation Elbow flexion contracture Follicular hyperkeratosis Progressive cerebellar ataxia Clinodactyly Hyperextensibility at wrists Micropenis Polyhydramnios Recurrent respiratory infections Respiratory distress Downslanted palpebral fissures Cleft palate Hypertelorism Increased laxity of ankles Pes valgus Increased laxity of fingers Increased endomysial connective tissue Impaired mastication Muscle fiber necrosis Nocturnal hypoventilation Diaphragmatic weakness Abnormality of muscle fibers Long toe Ventricular hypertrophy Recurrent infections Vertigo Abnormality of movement Leukodystrophy Hypertrichosis Progressive neurologic deterioration Pigmentary retinopathy Gliosis Abnormality of eye movement Abnormality of the eye Hemiplegia/hemiparesis Difficulty walking Heterogeneous Tics Sensorineural hearing impairment Encephalomalacia Titubation Emotional lability Failure to thrive in infancy Progressive encephalopathy Progressive ophthalmoplegia Myopia Delayed speech and language development Cataract Episodic metabolic acidosis Mitochondrial respiratory chain defects Hepatocellular necrosis Decreased activity of mitochondrial respiratory chain Progressive spastic paraplegia Abnormal pattern of respiration Asymmetric septal hypertrophy CNS demyelination Myelopathy Increased CSF lactate Respiratory arrest Mitochondrial inheritance Acute encephalopathy Abnormality of the vertebral column Abnormality of the skeletal system Increased serum pyruvate Triangular face Cirrhosis Malabsorption Dyspnea Narrow mouth Hyporeflexia Abnormality of coagulation Delayed myelination Tachypnea Poor suck Hyperammonemia Abnormality of the liver Hypoglycemia Elevated hepatic transaminase Poor speech Paresthesia Aminoaciduria Agenesis of corpus callosum Abnormal vertebral morphology Spastic tetraplegia Tetralogy of Fallot Tetraplegia Lethargy Myoclonus Blindness Brain atrophy Hypertonia Ventriculomegaly Abnormal activity of mitochondrial respiratory chain Gastrointestinal dysmotility Exertional dyspnea Glucose intolerance Blue sclerae Cerebellar atrophy Short nose Abnormal cerebellum morphology Left ventricular noncompaction Left ventricular failure Pyoderma Granulocytopenia Skeletal myopathy Abnormality of neutrophils Endocardial fibroelastosis Abnormality of the mitochondrion Agranulocytosis Recurrent aphthous stomatitis Organic aciduria Decreased plasma carnitine Recurrent bacterial infections Spontaneous abortion Full cheeks Cyclic neutropenia Abnormal mitochondrial morphology Neutropenia Reduced visual acuity Chorea Juvenile onset Falls Sensory neuropathy Hyperactivity Visual loss Diabetes mellitus Recurrent infections in infancy and early childhood Cerebral cortical atrophy Depressivity Pes cavus Pain Visual impairment Hearing impairment Intermittent lactic acidemia Sepsis Dilated cardiomyopathy Delayed skeletal maturation Hip dysplasia Retrognathia Posteriorly rotated ears Intellectual disability, severe Depressed nasal bridge Optic nerve hypoplasia Absence seizures Long face Intellectual disability, moderate Distal amyotrophy Delayed puberty Congenital cataract Pectus carinatum High forehead Absent speech Upslanted palpebral fissure Hypogonadism Nephrolithiasis Talipes Contiguous gene syndrome Broad forehead Abnormal heart morphology X-linked recessive inheritance Dilatation Pectus excavatum Milia Cystinuria Long eyelashes Neonatal hypoglycemia Severe failure to thrive Central hypotonia Polyphagia Increased body weight Nasal speech Hypergonadotropic hypogonadism Tibialis atrophy



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