Failure to thrive, and Intellectual disability, profound

Diseases related with Failure to thrive and Intellectual disability, profound

In the following list you will find some of the most common rare diseases related to Failure to thrive and Intellectual disability, profound that can help you solving undiagnosed cases.


Top matches:

High match 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY


3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY

High match CHILDHOOD-ONSET MOTOR AND COGNITIVE REGRESSION SYNDROME WITH EXTRAPYRAMIDAL MOVEMENT DISORDER


CONDBA is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows progressive cerebral and cerebellar atrophy (summary by Edvardson et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHILDHOOD-ONSET MOTOR AND COGNITIVE REGRESSION SYNDROME WITH EXTRAPYRAMIDAL MOVEMENT DISORDER

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Other less relevant matches:

High match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6


Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

High match AMELOCEREBROHYPOHIDROTIC SYNDROME


Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

AMELOCEREBROHYPOHIDROTIC SYNDROME Is also known as epilepsy and yellow teeth|kohlschutter syndrome|kohlschutter-tonz syndrome|epilepsy, dementia, and amelogenesis imperfecta|epilepsy-dementia-amelogenesis imperfecta syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AMELOCEREBROHYPOHIDROTIC SYNDROME

High match PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION


PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION Is also known as mitochondrial hsp60 chaperonopathy|mitchap60 disease

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION

High match 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY


3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY Is also known as mcc1 deficiency|3-methylcrotonylglycinuria i|mccd|3-methylcrotonylglycinuria|methylcrotonylglycinuria type i|mccd type 1|mcc deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY

High match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2


Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

High match PYRUVATE DEHYDROGENASE E3 DEFICIENCY


Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.

PYRUVATE DEHYDROGENASE E3 DEFICIENCY Is also known as e3-deficient maple syrup urine disease|nadh-cytochrome b5 reductase deficiency|dihydrolipoamide dehydrogenase deficiency|nadh-dependent methemoglobin reductase deficiency|methemoglobinemia, congenital, autosomal recessive|dld deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3 DEFICIENCY

High match KEPPEN-LUBINSKY SYNDROME


Keppen-Lubinsky syndrome is a very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).

KEPPEN-LUBINSKY SYNDROME Is also known as generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about KEPPEN-LUBINSKY SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Intellectual disability, profound

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

Patients with Failure to thrive and Intellectual disability, profound. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Feeding difficulties Hypertonia Severe global developmental delay Scoliosis Brain atrophy Strabismus Cerebral atrophy Ataxia Dystonia Hyperreflexia Absent speech Hypoplasia of the corpus callosum Intrauterine growth retardation Opisthotonus

Rare Symptoms - Less than 30% cases


Failure to thrive in infancy Edema Constipation Cerebellar hypoplasia Intellectual disability, severe Encephalopathy Generalized tonic seizures Smooth philtrum Focal-onset seizure Nystagmus Muscular hypotonia Flexion contracture Tented upper lip vermilion Apnea Hyperammonemia Feeding difficulties in infancy Choreoathetosis Leukodystrophy Respiratory insufficiency Vomiting Hypoglycemia Open mouth Coma Short philtrum Tetraplegia Involuntary movements Cerebral palsy Low-set ears Lethargy Short stature Mental deterioration Developmental regression Cerebral cortical atrophy Appendicular hypotonia Ventriculomegaly Postnatal growth retardation Muscular hypotonia of the trunk Gliosis Cerebellar atrophy Abnormality of movement Inability to walk Small for gestational age Behavioral abnormality Cyanosis Profound static encephalopathy Hepatomegaly Cardiomyopathy Headache Lactic acidosis Myoclonus Increased serum lactate Reduced visual acuity Elevated hepatic transaminase Muscle cramps Hepatic failure Abnormality of the nervous system Facial hypotonia Profound global developmental delay Tapered finger Thin upper lip vermilion Joint laxity Coarse facial features Prominent nasal bridge Broad forehead Poor speech Bulbous nose Dyskinesia Small hand Sleep disturbance Hip contracture Triangular face Prominent nose Esotropia Severe muscular hypotonia Plagiocephaly Infantile muscular hypotonia Absence seizures Cachexia Global brain atrophy Spastic tetraplegia Neurodevelopmental delay Tetraparesis Abnormally large globe Spastic tetraparesis Increased susceptibility to fractures Lipodystrophy Mask-like facies Narrow nasal bridge Shallow orbits Self-mutilation Progeroid facial appearance Premature skin wrinkling Upper airway obstruction Gingival overgrowth Dimple chin Narrow nasal ridge Narrow naris Prominent nasal tip Generalized lipodystrophy Absence of subcutaneous fat Congenital generalized lipodystrophy Loss of facial adipose tissue Tented philtrum Narrow nasal tip Recurrent pneumonia Thin skin Athetosis Athetoid cerebral palsy High forehead Exertional dyspnea Polycythemia Hypercoagulability Decreased plasma carnitine Hepatic encephalopathy Methemoglobinemia Abnormal cardiac ventricular function Elevated plasma branched chain amino acids Hyperisoleucinemia Decreased testicular size Increased urine alpha-ketoglutarate concentration Micrognathia High palate Proptosis Dyspnea Polyhydramnios Abnormality of eye movement High, narrow palate Underdeveloped nasal alae Febrile seizures Osteopenia Frontal bossing Brachycephaly Abnormality of dental enamel Premature birth Epileptic encephalopathy Hypsarrhythmia Cerebellar vermis hypoplasia Progressive neurologic deterioration Broad thumb Hypoplasia of dental enamel Hypohidrosis Coarse hair Generalized-onset seizure Amelogenesis imperfecta Abnormality of dental color Yellow-brown discoloration of the teeth Chorea Parkinsonism Postural instability Optic atrophy Neurodegeneration Babinski sign Peripheral demyelination EEG abnormality Apraxia Abnormality of skin pigmentation Motor deterioration Midface retrusion Axonal loss High pitched voice Alopecia Impulsivity Sparse hair Nail dystrophy Carious teeth Pancytopenia Upslanted palpebral fissure Fine hair Bone marrow hypocellularity CNS hypomyelination Oral leukoplakia Motor delay Hydrocephalus Language impairment Increased body weight Dementia Pneumonia Abnormal pyramidal sign Prominent forehead Acute hepatic steatosis Arachnoid cyst Poor appetite Drowsiness Ketoacidosis Ketonuria Abnormality of the cerebral vasculature Organic aciduria Neutrophilia Episodic metabolic acidosis Dysarthria Acute hyperammonemia Abnormality of leucine metabolism Ptosis Epicanthus Downslanted palpebral fissures Anarthria Anteverted nares Short neck Posteriorly rotated ears Visual impairment Dysphagia Postnatal microcephaly Areflexia Hydrops fetalis Aspiration Horizontal nystagmus Leukoencephalopathy Malnutrition Progressive spasticity Aspiration pneumonia Developmental stagnation Diarrhea Respiratory failure Hemiparesis Acidosis Gastroesophageal reflux Rigidity Irritability Stroke Nausea Metabolic acidosis Hyperactivity Aciduria Abnormality of the forehead



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