Brachydactyly, and Lactic acidosis

Diseases related with Brachydactyly and Lactic acidosis

In the following list you will find some of the most common rare diseases related to Brachydactyly and Lactic acidosis that can help you solving undiagnosed cases.


Top matches:

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 ACROMESOMELIC DYSPLASIA, GREBE TYPE


Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, GREBE TYPE Is also known as fumaric aciduria|chondrodysplasia, grebe type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, GREBE TYPE

Low match INSULIN-RESISTANCE SYNDROME TYPE A


Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.

INSULIN-RESISTANCE SYNDROME TYPE A Is also known as diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|iran, type a

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Brachydactyly
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INSULIN-RESISTANCE SYNDROME TYPE A

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Other less relevant matches:

Low match CRANIOECTODERMAL DYSPLASIA 2; CED2


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Low match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Low match WOLCOTT-RALLISON SYNDROME


Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

Low match KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS


KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome|bpids

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

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 COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23


Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A


MTDPS12A is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies (summary by Thompson et al., 2016).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Respiratory insufficiency
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A

Top 5 symptoms//phenotypes associated to Brachydactyly and Lactic acidosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Acidosis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Lactic acidosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Microcephaly Generalized hypotonia High palate Depressed nasal bridge Intrauterine growth retardation Abnormal facial shape Feeding difficulties in infancy Growth delay Muscular hypotonia Motor delay Upslanted palpebral fissure Abnormal heart morphology Cholestasis Epicanthus Short stature Ketoacidosis Diabetes mellitus Feeding difficulties Elevated hepatic transaminase Ventriculomegaly Low-set ears Metabolic acidosis

Rare Symptoms - Less than 30% cases


Acanthosis nigricans Hepatomegaly Dehydration Micrognathia Diarrhea Brachycephaly Growth hormone excess Insulin-resistant diabetes mellitus Polycystic ovaries Hypertonia Generalized hirsutism Insulin resistance Wide nasal bridge Epidermal acanthosis Narrow forehead Hirsutism Carious teeth Macrotia Mandibular prognathia Hyperkeratosis Hypertrichosis Hyperglycemia Hypoglycemia Sparse eyebrow Irritability Hypoplasia of the corpus callosum Postnatal growth retardation Abnormality of the cerebral white matter Anemia Cognitive impairment Spasticity Dry skin Abnormality of the dentition Plagiocephaly Osteopenia Microdontia Smooth philtrum Blepharophimosis Sparse hair Abnormality of the pinna Telecanthus Proteinuria High forehead Polydactyly Coarctation of aorta Obesity Renal insufficiency Hyperlordosis Cardiomyopathy Hypertrophic cardiomyopathy Polyhydramnios Increased serum lactate Lethargy Hyperbilirubinemia Postaxial hand polydactyly Abdominal distention Failure to thrive Visual impairment Hepatic failure Frontal bossing Ventricular septal defect Joint stiffness Respiratory insufficiency Neonatal hypotonia Patent ductus arteriosus Agenesis of corpus callosum Organic aciduria Transient neonatal diabetes mellitus Ptosis Strabismus Carpal bone hypoplasia Nystagmus Hearing impairment Thoracolumbar kyphosis Ivory epiphyses of the toes Narrow iliac wings Flattened epiphysis Central hypothyroidism Irregular tarsal ossification Pancreatic hypoplasia Hip subluxation Intracerebral periventricular calcifications Shortening of all middle phalanges of the fingers Decreased hip abduction Ivory epiphyses of the phalanges of the hand Arrhythmia Atlantoaxial dislocation Congestive heart failure Abnormality of pancreas morphology Small epiphyses Reduced pancreatic beta cells Irregular carpal bones Chronic hepatic failure Bilateral coxa valga Enlarged thorax Multiple epiphyseal dysplasia Muscle weakness Recurrent fractures Type I diabetes mellitus Coxa valga Abnormality of epiphysis morphology Abnormality of the metaphysis Blue sclerae Hepatitis Triangular face Coma Epiphyseal dysplasia Neutropenia Nephropathy Thin vermilion border Genu valgum Hypermetropia Platyspondyly Abnormality of mitochondrial metabolism Hip dislocation Wormian bones Preauricular pit Hyporeflexia Overweight Thin bony cortex Inability to walk Acute hepatic failure Barrel-shaped chest Renal tubular dysfunction Cone-shaped epiphyses of the phalanges of the hand Irregular vertebral endplates Respiratory insufficiency due to muscle weakness Spondyloepiphyseal dysplasia Exocrine pancreatic insufficiency Hypoplasia of the odontoid process Hyperuricemia Glycosuria Steatorrhea Neurodevelopmental delay Short thorax Abnormality of neuronal migration Reduced dihydropyrimidine dehydrogenase activity Thick nail Peripheral neuropathy Delayed speech and language development Laryngeal stridor Poor suck Long palm Onychauxis Coarse hair Abnormality of the outer ear Nephrocalcinosis Talipes equinovarus Precocious puberty Abnormal pyramidal sign Narrow palate Narrow face Preauricular skin tag Sparse and thin eyebrow Anal atresia Wide anterior fontanel Dental crowding Postprandial hyperglycemia Narrow palm Short distal phalanx of finger Advanced eruption of teeth Bilateral conductive hearing impairment Furrowed tongue Ovoid vertebral bodies Progeroid facial appearance Bell-shaped thorax Long penis Prematurely aged appearance Hypocholesterolemia Diastema Female pseudohermaphroditism Abnormality of the upper urinary tract Abnormality of the abdominal wall Abnormality of the thyroid gland Broad eyebrow Metatarsus adductus Neonatal respiratory distress Macrodontia Clitoral hypertrophy Cirrhosis Dyskinesia Myopia Posteriorly rotated ears Thin upper lip vermilion Pes planus Coarse facial features Gastroesophageal reflux Intractable diarrhea Narrow mouth Prominent forehead Constipation Abnormality of the nervous system Clinodactyly of the 5th finger Absent speech Recurrent infections Short nose Extrapyramidal dyskinesia Intellectual disability, severe Ovarian cyst Respiratory distress Conductive hearing impairment Muscular hypotonia of the trunk Thin skin Hip dysplasia Fine hair Optic disc pallor Brain atrophy Intestinal malrotation Microcornea Single transverse palmar crease Thick vermilion border Postaxial polydactyly Iris coloboma Morphological abnormality of the pyramidal tract Long face Short phalanx of finger Astigmatism Infantile spasms Excessive daytime somnolence Coloboma Abnormality of the kidney Reduced consciousness/confusion Atrial septal defect Skin rash Hepatosplenomegaly Macroglossia Prolactin excess Generalized hyperpigmentation Increased number of teeth Hyperinsulinemia Accelerated skeletal maturation Subcutaneous nodule Type II diabetes mellitus Muscle cramps Menstrual irregularities Delayed puberty Intellectual disability, mild Open operculum Aplasia of the middle phalanges of the toes Cutaneous leiomyoma Mitochondrial encephalopathy Choroid plexus cyst Macroorchidism Generalized hypertrichosis Infantile encephalopathy Inguinal hernia Stage 5 chronic kidney disease Narrow chest Dolichocephaly Craniosynostosis Joint laxity Retrognathia Rod-cone dystrophy Clinodactyly Cleft palate Pectus excavatum Hernia Midface retrusion Syndactyly Splenomegaly Short neck Abnormality of the skeletal system Hypertension Aplasia/Hypoplasia involving the metacarpal bones Psychomotor deterioration Renal cyst Encephalopathy Aciduria Short foot Polymicrogyria Micromelia Neurological speech impairment Pallor Skeletal dysplasia Cerebral atrophy Intellectual disability, profound Macrocephaly Optic atrophy Neoplasm Redundant neck skin Hypokinesia Redundant skin Small for gestational age Edema Generalized-onset seizure Status epilepticus Enterocolitis Abnormality of the coagulation cascade Short tibia Synostosis of carpal bones Fibular hypoplasia Polycythemia Aplasia/Hypoplasia of the thumb Tarsal synostosis Reduced subcutaneous adipose tissue Hypoplasia of the brainstem Bowing of the long bones Sarcoma Relative macrocephaly Optic nerve hypoplasia Disproportionate short-limb short stature Hyperammonemia Lissencephaly Aminoaciduria Short toe Everted lower lip vermilion Full cheeks Jaundice Obsessive-compulsive behavior Blue irides Self-mutilation Poor coordination Iron deficiency anemia Scleroderma Hypoplastic left heart Malnutrition Spontaneous abortion Generalized hypopigmentation Psychosis Eczema Cerebral calcification Delayed myelination Asthma Nausea Pruritus Fair hair Abnormal posturing Abnormality of the liver Pain Hypothyroidism Weight loss Osteoporosis Severe short stature Delayed skeletal maturation Kyphosis Gait disturbance Maternal hyperphenylalaninemia Mood changes Reduced phenylalanine hydroxylase activity Phenylpyruvic acidemia Increased level of hippuric acid in urine Microphakia Prenatal maternal abnormality Hyperphenylalaninemia Body odor Folate deficiency Attention deficit hyperactivity disorder Aggressive behavior Ectodermal dysplasia Widely spaced teeth Cutaneous finger syndactyly Cystic hygroma Nephronophthisis Mesomelia Preaxial polydactyly Patent foramen ovale Chronic kidney disease Cutis laxa High anterior hairline Sparse eyelashes Narrow palpebral fissure Short ribs Hepatic fibrosis Hydrops fetalis Rhizomelia Left ventricular hypertrophy Limb undergrowth Polysplenia Biliary cirrhosis Anxiety Tremor Autism Hyperactivity Depressivity Abnormality of cardiovascular system morphology Headache Behavioral abnormality Vomiting Hyperreflexia Cholangitis Cataract Fused teeth Metopic synostosis Horizontal ribs Portal fibrosis Bile duct proliferation Cloverleaf skull Broad philtrum Cerebral white matter atrophy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Microphthalmia, related diseases and genetic alterations Myopathy and Proteinuria, related diseases and genetic alterations Skeletal muscle atrophy and Small hand, related diseases and genetic alterations High palate and Frontal bossing, related diseases and genetic alterations Cleft palate and Pancytopenia, related diseases and genetic alterations Intellectual disability and Spina bifida, related diseases and genetic alterations

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