Abnormal facial shape, and Acidosis

Diseases related with Abnormal facial shape and Acidosis

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


Top matches:

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


Related symptoms:

  • Abnormal facial shape
  • Cognitive impairment
  • Feeding difficulties
  • Epicanthus
  • Vomiting


SOURCES: OMIM MENDELIAN

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

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2


Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2 Is also known as coxpd2|corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly
  • Ventriculomegaly
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2

Low match ROLANDIC EPILEPSY


Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

ROLANDIC EPILEPSY Is also known as becrs|bre|benign rolandic epilepsy|bects|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROLANDIC EPILEPSY

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Other less relevant matches:

Low match LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME


Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

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 DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY


Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Low match GLYCEROL KINASE DEFICIENCY; GKD


Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26


COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32


Combined oxidative phosphorylation deficiency-32 is an autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem consistent with Leigh syndrome (OMIM ). Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation (summary by Lake et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32

Low match JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT


Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Metabolic acidosis Common - Between 50% and 80% cases
Lactic acidosis Uncommon - Between 30% and 50% cases
Increased serum lactate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Lethargy Seizures Generalized hypotonia Vomiting Intellectual disability Muscular hypotonia Hypertelorism Growth delay Brain atrophy

Rare Symptoms - Less than 30% cases


Hyperreflexia Failure to thrive Myopathy Hypoplasia of the corpus callosum Hypertonia Poor speech Postnatal microcephaly Anteverted nares Cataract Depressed nasal bridge Spasticity Bulbous nose Gliosis Respiratory distress Frontal bossing Dystonia Narrow mouth Delayed myelination Strabismus Cirrhosis Cardiomyopathy Ventriculomegaly Epicanthus Low-set ears Elevated hepatic transaminase Feeding difficulties in infancy Small for gestational age Hypoglycemia Abnormal activity of mitochondrial respiratory chain Gastrointestinal dysmotility Nystagmus Ptosis Blue sclerae Mitochondrial myopathy Exertional dyspnea Flexion contracture Glucose intolerance Interstitial pulmonary abnormality Fragile skin Optic atrophy Ragged-red muscle fibers Exercise intolerance Tubular atrophy Onycholysis Fine hair Triangular face Muscle weakness Ketoacidosis Adrenal hypoplasia Episodic vomiting Congenital adrenal hypoplasia Adrenocortical hypoplasia Increased urinary glycerol Hyperglycerolemia Respiratory acidosis Paresthesia Hyporeflexia Babinski sign Crossed fused renal ectopia Decreased glomerular filtration rate Dyspnea Absent speech Malabsorption Tremor Ectopic kidney Visual loss Nail dystrophy Hypoalbuminemia Macrotia Sparse eyelashes Recurrent pneumonia Proteinuria Respiratory tract infection Erythema Narrow chest Loss of consciousness Round face Gynecomastia Abnormal blistering of the skin Cyanosis Nephrotic syndrome Sparse and thin eyebrow Abnormal lung morphology Glomerulosclerosis Prominent forehead Constipation Focal segmental glomerulosclerosis Sparse scalp hair Gastroesophageal reflux Kyphoscoliosis Coarse facial features Muscular hypotonia of the trunk Developmental regression Irritability Inability to walk Recurrent respiratory infections Choreoathetosis Exotropia Neonatal respiratory distress Increased CSF lactate Fever Renal insufficiency Pneumonia Pathologic fracture Microphthalmia Adrenal insufficiency Micrognathia Generalized tonic-clonic seizures Abdominal distention Clonus Muscle fibrillation Enterocolitis Fetal distress Prenatal movement abnormality Midface retrusion Myoclonus Deeply set eye Hypertrophic cardiomyopathy Wide mouth Dilated cardiomyopathy Facial asymmetry Neuronal loss in central nervous system Left ventricular noncompaction Apnea Respiratory insufficiency Delayed speech and language development Ketosis Abnormality of the liver Decreased liver function Tachypnea Hyperammonemia Poor suck Abnormality of mitochondrial metabolism Abnormality of coagulation Increased serum pyruvate Anemia Brachydactyly Edema Patent ductus arteriosus Agenesis of corpus callosum Neonatal hypotonia Redundant skin Hypokinesia Redundant neck skin Hyperalaninemia Talipes equinovarus Hyperlipidemia Adducted thumb High forehead Sparse hair Hepatic failure Underdeveloped nasal alae Aciduria Infantile muscular hypotonia Tented upper lip vermilion Short stature Long philtrum Cryptorchidism Osteoporosis Diabetes mellitus Muscular dystrophy Downturned corners of mouth Coma Hypertriglyceridemia Cognitive impairment Short nose Diarrhea Short phalanx of finger Abnormal pyramidal sign Abnormality of the cerebral white matter Anal atresia Short distal phalanx of finger Dyskinesia Hip dysplasia Cholestasis Plagiocephaly Downslanted palpebral fissures Infantile spasms Excessive daytime somnolence Reduced consciousness/confusion Morphological abnormality of the pyramidal tract Intractable diarrhea Extrapyramidal dyskinesia Reduced dihydropyrimidine dehydrogenase activity High palate Junctional split



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