Failure to thrive, and Heterotopia

Diseases related with Failure to thrive and Heterotopia

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

Top matches:

PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM Is also known as heterotopia, periventricular, autosomal recessive|periventricular nodular heterotopia 2|pvnh2

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM

Medium match MALONIC ACIDURIA

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

MALONIC ACIDURIA Is also known as malonyl-coa decarboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MALONIC ACIDURIA

BILATERAL GENERALIZED POLYMICROGYRIA Is also known as pmgys|polymicrogyria with seizures

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL GENERALIZED POLYMICROGYRIA

Other less relevant matches:

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia|mesoectodermal dysplasia|chondroectodermal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ELLIS VAN CREVELD SYNDROME

Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.

CAREY-FINEMAN-ZITER SYNDROME Is also known as myopathy-moebius-robin syndrome|myopathy, congenital nonprogressive, with moebius sequence and robin sequence

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CAREY-FINEMAN-ZITER SYNDROME

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

BORJESON-FORSSMAN-LEHMANN SYNDROME Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type|bfls|intellectual disability-epilepsy-endocrine disorders syndrome|borjeson syndrome|mrxsbfl|mental retardation, epilepsy, and endocrine disorders|borj

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BORJESON-FORSSMAN-LEHMANN SYNDROME

Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3|lissencephaly due to 17p13.3 deletion|mds|telomeric deletion 17p

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MILLER-DIEKER SYNDROME

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Hypospadias Abnormal facial shape Pachygyria Growth delay Strabismus Atrial septal defect Hypertelorism Micrognathia Macrocephaly Hearing impairment Motor delay Feeding difficulties Hypoplasia of the corpus callosum Intellectual disability, severe Ptosis Muscular hypotonia Epicanthus Talipes equinovarus Wide nasal bridge Intrauterine growth retardation Abnormal heart morphology Agenesis of corpus callosum Polymicrogyria Abnormality of the skeletal system Cleft palate Flexion contracture Lissencephaly Abnormality of neuronal migration Scoliosis High palate Nystagmus Low-set ears EEG abnormality Thin vermilion border Feeding difficulties in infancy Skeletal muscle atrophy Retrognathia Polyhydramnios Short nose Ventriculomegaly Anteverted nares Cataract Long philtrum

Rare Symptoms - Less than 30% cases

Gynecomastia Short palpebral fissure Decreased fetal movement Delayed eruption of teeth Oral cleft Polydactyly Thoracic hypoplasia Low anterior hairline Highly arched eyebrow Dysphagia Thick vermilion border Abnormality of metabolism/homeostasis Hypermetropia Abnormality of the cerebral white matter Dolichocephaly Dilatation Talipes Plagiocephaly Downslanted palpebral fissures Delayed skeletal maturation Thin upper lip vermilion Abnormality of cardiovascular system morphology Camptodactyly Abnormality of the dentition Pneumonia Depressed nasal bridge Postnatal growth retardation Infantile muscular hypotonia High forehead Cerebral cortical atrophy Brachycephaly Cleft upper lip Upslanted palpebral fissure Posteriorly rotated ears Wide nose Tapered finger Frontal bossing Clinodactyly Visual impairment Mild short stature Hypertrichosis Coarse facial features Narrow forehead Aplasia/Hypoplasia of the cerebellum Periventricular gray matter heterotopia Abnormality of the pinna Hammertoe Infantile spasms Tetraparesis Cerebellar atrophy Absent speech Cerebellar hypoplasia Severe short stature Intellectual disability, moderate Micropenis Prominent forehead Obesity Short neck Hypsarrhythmia Duodenal atresia Prominent occiput Decreased testicular size Hypoplasia of penis Pelvic kidney Decerebrate rigidity Full cheeks Amenorrhea Agyria Nephropathy Recurrent aspiration pneumonia Single transverse palmar crease Cavum septum pellucidum Spastic diplegia Deep palmar crease Thick upper lip vermilion Premature skin wrinkling Abnormality of the cardiovascular system Omphalocele Flat face Joint contracture of the hand Sacral dimple Deep philtrum Progressive spastic paraplegia Spastic gait Neoplasm Paraplegia Large earlobe Type I lissencephaly Ataxia Scheuermann-like vertebral changes Hypoplasia of the prostate Widely spaced toes Cervical spinal canal stenosis Shortening of all middle phalanges of the fingers Moderately short stature Diabetic ketoacidosis Inguinal hernia Clinodactyly of the 5th finger Long ear Camptodactyly of toe Shortening of all distal phalanges of the fingers Short 5th finger Hyperpigmentation of the skin Ketoacidosis Broad neck Broad foot Hypopituitarism Thickened calvaria Abnormality of the hip bone External genital hypoplasia Truncal obesity Prominent supraorbital ridges Scrotal hypoplasia Narrow palpebral fissure Hypergonadotropic hypogonadism Short toe Spastic paraplegia Abnormality of upper lip Bile duct proliferation Midline brain calcifications Bifid uvula Spontaneous abortion Pointed chin Hoarse voice Aortic valve stenosis Postnatal microcephaly Low posterior hairline High myopia Webbed neck Lymphoma Everted lower lip vermilion Abnormality of the outer ear Iris coloboma Smooth philtrum Arthrogryposis multiplex congenita Leukemia Broad forehead Microtia Coloboma Wide mouth Joint stiffness Cleft lip Bicuspid aortic valve Redundant skin Mandibular prognathia Depressed nasal tip Duplication of phalanx of hallux Prominent fingertip pads Unilateral ptosis Small thenar eminence Facial edema U-Shaped upper lip vermilion Congenital ptosis Retinal coloboma Widow's peak Acute lymphoblastic leukemia Bilateral ptosis Inverted nipples Esophageal atresia Protruding tongue Long palpebral fissure Abnormality of the sternum Tracheoesophageal fistula Chorioretinal coloboma Overfolded helix Ectropion Trigonocephaly Conductive hearing impairment Weight loss Bitemporal hollowing Renal cyst Aspiration Large fontanelles Cholestasis Split hand Peripheral demyelination Progressive visual loss Gliosis Abdominal distention Ascites Hepatic steatosis Decreased nerve conduction velocity Severe global developmental delay Abnormality of the liver Elevated hepatic transaminase Neonatal hypotonia Osteopenia Visual loss Pectus excavatum Congestive heart failure Optic atrophy Hepatomegaly Progressive hearing impairment Decreased muscle mass Hyperactivity Renal cortical microcysts Patent ductus arteriosus Midface retrusion Microphthalmia Dystonia Edema Myopia Sensorineural hearing impairment Generalized cerebral atrophy/hypoplasia Calcific stippling Fetal ascites Chylous ascites Delayed cranial suture closure Cerebral hypoplasia Cerebral dysmyelination Enterocolitis Corpus callosum atrophy Undetectable electroretinogram Aspiration pneumonia Adrenal hypoplasia Scaphocephaly Primary adrenal insufficiency Cortical dysplasia Thick eyebrow Abnormal lung morphology Joint hyperflexibility Aplasia/Hypoplasia of the ribs Genu valgum Narrow chest Nail dystrophy Pectus carinatum Abnormality of the kidney Skeletal dysplasia Ventricular septal defect Abnormality of the cerebral cortex Phimosis Short distal phalanx of finger Talipes calcaneovalgus Colpocephaly Broad philtrum Prominent metopic ridge Hallux valgus Wide intermamillary distance High, narrow palate Dysmetria Micromelia Postaxial polydactyly Joint laxity Short ribs Cubitus valgus Hand polydactyly Abnormality of pelvic girdle bone morphology Short long bone Renal hypoplasia/aplasia Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Abnormality of the hair Hypodontia Situs inversus totalis Postaxial hand polydactyly Limb undergrowth Microdontia Dandy-Walker malformation Renal agenesis Nail dysplasia Ectodermal dysplasia Low-set, posteriorly rotated ears Gait ataxia Emphysema Abdominal pain Hyperammonemia Recurrent urinary tract infections Febrile seizures Metabolic acidosis Lactic acidosis Hypertrophic cardiomyopathy Hypoglycemia Acidosis Constipation Ketosis Diarrhea Vomiting Cardiomyopathy Pain Epileptic spasms Poor eye contact Progressive microcephaly Recurrent infections Poor appetite Chronic constipation Hyperkeratosis Ectopic kidney Intellectual disability, mild Delayed speech and language development Short corpus callosum Gray matter heterotopias Abnormality of the spinal cord Abnormal corpus callosum morphology Cardiorespiratory arrest Severe failure to thrive Multiple joint contractures Episodic vomiting Unilateral renal agenesis Spastic tetraparesis Sloping forehead Poor speech Abnormal pyramidal sign Craniosynostosis Dysarthria Spasticity Hypoplastic toenails Dextrocardia Delayed puberty Ulnar deviation of finger Flushing Trismus Facial diplegia Microglossia Pierre-Robin sequence Ankylosis Glossoptosis Hypoventilation Restrictive ventilatory defect Abnormality of the larynx Bilateral talipes equinovarus Hypoplasia of the brainstem Relative macrocephaly Cranial nerve paralysis Severe muscular hypotonia Cerebral calcification Broad nasal tip Ophthalmoplegia Villous atrophy Ulnar deviation of the hand Paralysis Pectoralis hypoplasia Blepharophimosis Sparse hair Deeply set eye Macrotia Hypothyroidism Hypogonadism Kyphosis Peripheral neuropathy Congenital facial diplegia Hypoplasia of the musculature Impaired ocular abduction Aplasia of the pectoralis major muscle Hypertensive crisis Glandular hypospadias Aplasia/Hypoplasia of the tongue Nocturnal hypoventilation Laryngeal stenosis Oculomotor nerve palsy Abnormal cardiac septum morphology Facial palsy Hydroureter Foot polydactyly Abnormal hair quantity Abnormality of female internal genitalia Thoracic dysplasia Hypoplastic iliac wing Acute leukemia Aplasia/Hypoplasia of the lungs Postaxial foot polydactyly Upper limb undergrowth Synostosis of carpal bones Horizontal ribs Abnormality of the ureter Natal tooth Abnormal heart valve morphology Disproportionate short stature Atrioventricular canal defect Agenesis of permanent teeth Short thorax Hypoplastic left heart Epispadias Abnormal oral mucosa morphology Hydronephrosis Muscle weakness Gastroesophageal reflux Hyperhidrosis Elevated serum creatine phosphokinase Myopathy Respiratory distress Respiratory insufficiency Brachydactyly Hypertension Cone-shaped epiphyses of phalanges 2 to 5 Neonatal short-limb short stature Abnormality of the alveolar ridges Acetabular spurs Short iliac bones Congenital megaureter Capitate-hamate fusion Conical incisor Abnormal oral frenulum morphology Common atrium Abnormality of bone marrow cell morphology Small posterior fossa


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