Failure to thrive, and Macrocephaly

Diseases related with Failure to thrive and Macrocephaly

In the following list you will find some of the most common rare diseases related to Failure to thrive and Macrocephaly 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

Medium match FG SYNDROME 2; FGS2


Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

Medium match METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY


Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.

METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa racemase deficiency|methylmalonyl-coa racemase deficiency|methylmalonic aciduria due to methylmalonyl-coa racemase deficiency|methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency|mcee deficie

Related symptoms:

  • Failure to thrive
  • Spasticity
  • Motor delay
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY

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Other less relevant matches:

Medium match INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME


Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

Medium match HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY


Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.

HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY Is also known as mental retardation, autosomal recessive 8, formerly|adk hypermethioninemia|mrt8, formerly|hypermethioninemia encephalopathy due to adk deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY

Medium match SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8 Is also known as srps6|short rib-polydactyly syndrome, type vi

Related symptoms:

  • Short stature
  • Failure to thrive
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8

Medium match SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Medium match AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME


An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.

AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME Is also known as kcs|kenny-caffey syndrome, autosomal recessive

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME

Medium match PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY


Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY Is also known as pepck deficiency|pc deficiency|leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis ii|leigh syndrome due to pyruvate carboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Failure to thrive and Macrocephaly

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Failure to thrive and Macrocephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Delayed speech and language development Poor speech Hyperactivity Relative macrocephaly Hepatomegaly

Rare Symptoms - Less than 30% cases


Motor delay Vomiting Diarrhea Acidosis Delayed gross motor development Delayed myelination Gastroesophageal reflux Metabolic acidosis Tachypnea Strabismus Large forehead Broad forehead Abnormal facial shape Postnatal growth retardation Intrauterine growth retardation Prominent forehead Growth delay Microcephaly Cerebral atrophy Small hand Interstitial pneumonitis Anemia Delayed skeletal maturation Carious teeth Short palm Increased serum pyruvate Short foot Prominent occiput Full cheeks Hypocalcemia Recurrent bacterial infections Delayed cranial suture closure Slender long bone Thin ribs Proportionate short stature Hypoparathyroidism Chronic lung disease Chronic diarrhea Abnormal intestine morphology Hypothyroidism Acetabular spurs Low-set ears Splenomegaly Clinodactyly Posteriorly rotated ears Diabetes mellitus Respiratory failure Proptosis Camptodactyly Short chin Autoimmunity Dolichocephaly Malabsorption Asthma Hepatitis Abnormal lung morphology Hypomagnesemia Type I diabetes mellitus Severe postnatal growth retardation Generalized tonic seizures Decreased skull ossification Periventricular cysts Hypoglycemia Lactic acidosis Increased serum lactate Leukodystrophy Clonus Chronic metabolic acidosis Hyperammonemia CNS hypomyelination Necrotizing encephalopathy Encephalopathy Athetosis Increased head circumference Renal tubular acidosis Proximal renal tubular acidosis Ketoacidosis Periventricular leukomalacia Dysgraphia Cystinuria Pneumonia Renal insufficiency Tetany Congenital hypoparathyroidism Delayed closure of the anterior fontanelle Hyperalaninemia Long clavicles Hypocalcemic seizures Hypocalcemic tetany Birth length less than 3rd percentile Thin clavicles Cortical thickening of long bone diaphyses Congenital lactic acidosis Congestive heart failure Thin long bone diaphyses Lateral clavicle hook Stenosis of the medullary cavity of the long bones Calvarial osteosclerosis Muscular hypotonia Dysarthria Respiratory distress Intellectual disability, severe Pancreatic fibrosis Brachydactyly Thoracic dysplasia Irritability Short nose Obesity Autism Retrognathia Anxiety Aggressive behavior Intellectual disability, moderate Attention deficit hyperactivity disorder Downslanted palpebral fissures Broad nasal tip Apraxia Open mouth Stereotypy Drooling Language impairment Delayed ability to walk Speech apraxia Behavioral abnormality Nystagmus Feeding difficulties Anteriorly placed anus Hypertonia Brain atrophy Absence seizures Abnormal heart morphology Constipation Neonatal hypotonia Abnormality of the pinna Protruding ear Frontal upsweep of hair Methylmalonic acidemia Underdeveloped superior crus of antihelix Spasticity Hydrocephalus Dystonia Aciduria Dehydration Ketonuria Methylmalonic aciduria Cognitive impairment Tremor Femoral bowing Polyhydramnios Hypermethioninemia Narrow foot Short stature Depressed nasal bridge Ventricular septal defect Respiratory insufficiency Syndactyly Polydactyly Cleft lip Secundum atrial septal defect Narrow chest Oral cleft Pulmonary hypoplasia Postaxial polydactyly Ambiguous genitalia Short ribs Short long bone Preaxial polydactyly Portal fibrosis Hyperbilirubinemia Deeply set eye Sensorineural hearing impairment Hyperlordosis Microtia Neurological speech impairment Long face Generalized myoclonic seizures Focal-onset seizure Postnatal macrocephaly Hearing impairment Muscle weakness Decreased liver function Skeletal muscle atrophy Atrial septal defect Elevated hepatic transaminase Pulmonic stenosis Hepatic steatosis Coarctation of aorta Cholestasis Progressive muscle weakness Neuronal loss in the cerebral cortex



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