Failure to thrive, and Full cheeks

Diseases related with Failure to thrive and Full cheeks

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

Top matches:

Acute infantile liver failure-multisystemic involvement syndrome is a rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME

A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46; EIEE46

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

Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.

PONTOCEREBELLAR HYPOPLASIA TYPE 6 Is also known as fatal infantile encephalopathy with mitochondrial respiratory chain defects|pch6|encephalopathy, fatal infantile, with mitochondrial respiratory chain defects

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 6

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

High match RAMON SYNDROME

A slowly progressive syndrome of cherubic facies (fullness of the cheeks, producing a typical chubby face suggestive of a cherub) maxillary fibrous dysplasia, gingival enlargement, radiolucent lesions of the jaws, seizures, delayed mental development, stunted growth, and other defects. Insulin dependent diabetes mellitus and vascular skin lesions may occur.

RAMON SYNDROME Is also known as cherubism-gingival fibromatosis-intellectual disability syndrome|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAMON SYNDROME

Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Full cheeks

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Deeply set eye Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Intellectual disability Hepatic failure Hypertelorism Feeding difficulties Hearing impairment Abnormality of the liver Elevated hepatic transaminase Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases

Abnormality of skin pigmentation Optic atrophy Absent speech Intrauterine growth retardation Narrow palate Hypermelanotic macule Telangiectasia of the skin Hydronephrosis Generalized hirsutism Round face Broad nasal tip Postnatal growth retardation Macrocephaly Depressed nasal bridge Wide mouth Anemia Hepatomegaly Frontal bossing Delayed cranial suture closure Hepatic steatosis Polymicrogyria Thin vermilion border Decreased liver function Neoplasm Scoliosis Long philtrum Hydrocephalus Short stature Cardiomyopathy Myalgia Pain Hypoglycemia Skeletal muscle atrophy Thin upper lip vermilion Anteverted nares Cirrhosis Elevated serum creatine phosphokinase Obesity Myopathy Congestive heart failure Scarring Intellectual disability, mild Proximal muscle weakness Malar flattening Carcinoma Immunodeficiency Midface retrusion Hypertrophic cardiomyopathy Telangiectasia Muscle weakness Delayed eruption of teeth Nevus flammeus Arteriovenous malformation Cerebral ischemia Visceral angiomatosis Abnormality of nervous system morphology Asymmetric growth Kyphosis Diabetes mellitus Hyperkeratosis Conductive hearing impairment Arthritis Pallor Retinopathy Pigmentary retinopathy Enlarged labia minora Optic disc pallor Hypertrichosis Decreased body weight Otitis media Abnormality of retinal pigmentation Abnormality of dental enamel Osteolysis Rheumatoid arthritis Juvenile rheumatoid arthritis Gingival fibromatosis Abnormal anterior chamber morphology Angiokeratoma Axenfeld anomaly Distal amyotrophy Ketotic hypoglycemia Cardiomegaly Prominent metopic ridge Low posterior hairline Pachygyria Large fontanelles Pointed chin Lissencephaly Mutism Trigonocephaly Hydroureter Aphasia Dysphasia Long nose Long palpebral fissure Palpebral edema Webbed neck Transient ischemic attack Short columella Depressed nasal tip Heterochromia iridis Echolalia Optic nerve coloboma Abnormality of the upper urinary tract Subcortical cerebral atrophy Macrogyria Duplication of thumb phalanx Retinoschisis Cerebral cortical hemiatrophy Osteochondrosis Specific learning disability Prominent nose Epistaxis Micrognathia Ventricular hypertrophy Hypertriglyceridemia Progressive muscle weakness Hepatic fibrosis Sinusitis Hyperlipidemia Progressive hearing impairment Recurrent sinusitis Ketosis Recurrent corneal erosions Skeletal myopathy Micronodular cirrhosis Periportal fibrosis Ptosis Microcornea Epicanthus Wide nasal bridge Downslanted palpebral fissures Short neck Cerebral cortical atrophy Retrognathia Skeletal dysplasia Coarse facial features Telecanthus Joint stiffness Wide nose Iris coloboma Highly arched eyebrow Foot polydactyly Increased CSF lactate Cutis marmorata Pes planus Prominence of the premaxilla Congenital giant melanocytic nevus Nevus spillus Spasticity Joint laxity Cholestasis CNS hypomyelination Hyperextensible skin Visual impairment Dysphagia Hypertonia Constipation Muscular hypotonia of the trunk Cutaneous melanoma Thick eyebrow Epileptic encephalopathy Hypsarrhythmia Status epilepticus Long eyelashes Cerebral visual impairment Widely spaced teeth Tented upper lip vermilion Delayed skeletal maturation Carious teeth Short palm Small hand Epidermal nevus Narrow nasal ridge Hypocalcemia Pruritus Lactic acidosis Delayed gross motor development Abnormality of the coagulation cascade Long fingers Microcytic anemia Macrocytic anemia Acute hepatic failure Long toe Short nose Prominent forehead Broad forehead Papule Everted lower lip vermilion Thick hair Nevus Open mouth Subcutaneous nodule Neoplasm of the skin Hypopigmented skin patches Melanoma Sarcoma Deep philtrum Melanocytic nevus Narrow nasal bridge Calvarial skull defect Periorbital fullness Rhabdomyosarcoma Short foot Recurrent bacterial infections Aplasia/Hypoplasia of the cerebellum Upper limb spasticity Progressive visual loss Generalized-onset seizure Narrow forehead Cerebellar vermis hypoplasia Lower limb spasticity Progressive microcephaly Poor head control Adducted thumb Poor suck Global brain atrophy Atrophy/Degeneration affecting the brainstem Upper airway obstruction Infantile encephalopathy Generalized myoclonic seizures Small posterior fossa Muscular hypotonia Ventriculomegaly Abnormality of cardiovascular system morphology Arrhythmia High forehead Finger syndactyly Toe syndactyly Facial asymmetry Joint hyperflexibility Arnold-Chiari malformation Hand polydactyly Increased serum lactate Lethargy Slender long bone Birth length less than 3rd percentile Thin ribs Proportionate short stature Hypoparathyroidism Severe postnatal growth retardation Hypomagnesemia Decreased skull ossification Tetany Delayed closure of the anterior fontanelle Generalized tonic seizures Long clavicles Hypocalcemic seizures Hypocalcemic tetany Thin clavicles Prominent nasal bridge Cortical thickening of long bone diaphyses Congenital hypoparathyroidism Thin long bone diaphyses Stenosis of the medullary cavity of the long bones Calvarial osteosclerosis Hyperreflexia Cerebellar atrophy Cerebral atrophy Encephalopathy Clinodactyly Visual loss Cerebellar hypoplasia Apnea Euryblepharon


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