Abnormal facial shape, and Aciduria

Diseases related with Abnormal facial shape and Aciduria

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


Top matches:

Low match PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Micrognathia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A

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 BRUCK SYNDROME


Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.

BRUCK SYNDROME Is also known as osteogenesis imperfecta with congenital joint contractures|osteogenesis imperfecta-congenital joint contractures syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Talipes equinovarus
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRUCK SYNDROME

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Other less relevant matches:

Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

Low match BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA


Beta-aminoisobutyric acid (BAIB) is a product of pyrimidine catabolism. Excretion of BAIB in urine is a benign 'metabolic polymorphism' present in many human populations (Scriver and Perry, 1989).

BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA Is also known as hyper-beta-aminoisobutyric aciduria|beta-aminoisobutyric acid, urinary excretion of|baib urinary excretion

Related symptoms:

  • Aminoaciduria


SOURCES: MESH OMIM MENDELIAN

More info about BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA

Low match SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A


Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a|mocod type a

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

Low match SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B


Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood (summary by Reiss et al., 1999).For a general phenotypic description and a discussion of genetic heterogeneity of MOCOD, see MOCODA (OMIM ), which is clinically indistinguishable from MOCODB.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B Is also known as combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type b|mocod type b

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B

Low match NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY


Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY Is also known as beta-hydroxyisobutyryl coa deacylase deficiency|valine metabolic defect|methacrylic aciduria|hibch deficiency|methacrylic acid toxicity

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY

Low match D-2-HYDROXYGLUTARIC ACIDURIA


D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

Low match LEBER CONGENITAL AMAUROSIS


Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

LEBER CONGENITAL AMAUROSIS Is also known as crb|amaurosis congenita of leber i|lca|amaurosis congenita of leber|retinal blindness, congenital

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cerebral atrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Muscular hypotonia Ventriculomegaly Frontal bossing Nystagmus Hypertelorism Intellectual disability Coarse facial features Hypoplasia of the corpus callosum Blindness Growth delay Abnormality of the eye Thick vermilion border Macrocephaly Short nose Encephalopathy Aminoaciduria Long philtrum Spastic tetraplegia

Rare Symptoms - Less than 30% cases


Opisthotonus Tetraparesis Spastic tetraparesis Axonal loss Ectopia lentis Hypertonia Peripheral demyelination Respiratory insufficiency Full cheeks Gliosis Long face Myoclonic spasms Hyperreflexia Visual impairment Hearing impairment Sensorineural hearing impairment Muscle weakness Mandibular prognathia Lens luxation Metabolic acidosis Acidosis Xanthinuria Micrognathia Hepatomegaly Wide nasal bridge High forehead Irritability Muscular hypotonia of the trunk Dolichocephaly Triangular face Vomiting Hypouricemia Abnormality of neuronal migration Lethargy Xanthine nephrolithiasis Myoclonus Increased urinary hypoxanthine Cataract Dystonia Anteverted nares Depressed nasal bridge Increased urinary taurine Epicanthus Molybdenum cofactor deficiency Behavioral abnormality Protruding ear Abnormal vertebral morphology Truncal ataxia Apnea Skeletal dysplasia Broad nasal tip Cerebral cortical atrophy Hyperactivity Brachycephaly Neurodegeneration Prominent forehead Optic atrophy Malar flattening Cardiomyopathy Acute encephalopathy Tetraplegia Increased serum lactate Dysmetria Respiratory distress Tetralogy of Fallot Encephalomalacia Decreased activity of the pyruvate dehydrogenase complex Edema Abnormality of the vertebral column Agenesis of corpus callosum Progressive encephalopathy Developmental regression Titubation Flat face Delayed CNS myelination Focal-onset seizure Cone/cone-rod dystrophy Retinopathy Short philtrum Hypermetropia Congenital cataract Talipes Retinal degeneration Retinal dystrophy Pigmentary retinopathy Narrow forehead Cerebellar vermis hypoplasia Encephalocele Exotropia Abnormality of retinal pigmentation Low anterior hairline Abnormal electroretinogram Photophobia Hemiplegia/hemiparesis High hypermetropia Keratoconus Hyperactive deep tendon reflexes Congenital blindness Severe vision loss Pendular nystagmus Decreased light- and dark-adapted electroretinogram amplitude Abnormality of the optic disc Aplasia/Hypoplasia of the cerebellar vermis Talipes equinovalgus Fundus atrophy Eye poking Hyperthreoninuria Abnormality of the kidney Thin upper lip vermilion Epileptic encephalopathy Episodic vomiting Hypsarrhythmia Involuntary movements Cerebral visual impairment Absence seizures Severe muscular hypotonia Aortic regurgitation Shock Focal impaired awareness seizure Stridor Turricephaly Increased CSF protein Dilation of lateral ventricles Strabismus Periventricular leukomalacia Generalized tonic seizures Rod-cone dystrophy Inspiratory stridor Narrow naris Anteverted ears Infantile encephalopathy Glutaric aciduria Cardiogenic shock Subependymal cysts D-2-hydroxyglutaric aciduria Multifocal cerebral white matter abnormalities Tremor Abnormality of the skeletal system Intellectual disability, severe Dilatation Visual loss Cryptorchidism Neuronal loss in central nervous system Ataxia Joint stiffness Adducted thumb Short stature Scoliosis Flexion contracture Talipes equinovarus Kyphosis Hernia Inguinal hernia Osteoporosis Osteopenia Pectus carinatum Infantile muscular hypotonia Platyspondyly Arthrogryposis multiplex congenita Recurrent fractures Bowing of the long bones Elbow flexion contracture Wormian bones Knee flexion contracture Pterygium Increased susceptibility to fractures Bilateral talipes equinovarus Tented upper lip vermilion Postnatal microcephaly Hydroxyprolinuria Posterior embryotoxon Jaundice Abnormality of the nervous system Polymicrogyria Cyanosis Cholestasis Heterotopia Large fontanelles Hyperbilirubinemia Flat occiput Central hypotonia Delayed closure of the anterior fontanelle Underdeveloped nasal alae Dicarboxylic aciduria Neonatal hyperbilirubinemia Abnormality of the nasal bridge High palate Downslanted palpebral fissures Microphthalmia Sparse hair Lactic acidosis Hepatic failure Bulbous nose Delayed myelination Femoral bowing Cognitive impairment Diffuse cerebral atrophy Poor head control Distal sensory impairment of all modalities White mater abnormalities in the posterior periventricular region Telangiectasia of the oral mucosa Hydrocephalus EEG abnormality Deeply set eye Feeding difficulties in infancy Severe global developmental delay Brain atrophy Progressive microcephaly Hemiplegia Lip telangiectasia Abnormal muscle tone Sulfite oxidase deficiency Decreased urinary sulfate Increased urinary sulfite Reduced xanthine dehydrogenase activity Increased urinary thiosulfate Decreased urinary urate Absent urinary urothione Aldehyde oxidase deficiency Cardiorespiratory arrest Increased urinary O-linked sialopeptides Angiokeratoma corporis diffusum Peripheral neuropathy Bilateral sensorineural hearing impairment Intellectual disability, mild Hyperkeratosis Distal muscle weakness Papule Abnormality of the cerebral white matter Dry skin Peripheral axonal neuropathy Vertigo Distal sensory impairment Polyneuropathy Cardiomegaly Angiokeratoma Thick lower lip vermilion Subcutaneous nodule Telangiectasia Lymphedema Opacification of the corneal stroma Tinnitus Axonal degeneration Telangiectasia of the skin Abnormality of the periventricular white matter Motor polyneuropathy Progressive distal muscle weakness Hyperthreoninemia



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