Failure to thrive, and Polydactyly

Diseases related with Failure to thrive and Polydactyly

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

Top matches:

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

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

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

Other less relevant matches:

BBS11 was diagnosed in members of a single Israeli Bedouin family based on the presence of at least 3 of the following features: obesity, polydactyly, renal anomalies, retinopathy, hypogonadism, and learning disabilities (Chiang et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Obesity
  • Hypogonadism
  • Polydactyly
  • Abnormality of the kidney
  • Retinopathy


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 11; BBS11

Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by Falik Zaccai et al., 2017 and Hall et al., 2017).

PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER Is also known as plaand

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER

Low match COG6-CGD

CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Postaxial polydactyly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Respiratory insufficiency Edema Hepatomegaly Ventriculomegaly Frontal bossing Optic atrophy Hypoplasia of the corpus callosum Spasticity Epicanthus Macrocephaly Ventricular septal defect Generalized hypotonia

Rare Symptoms - Less than 30% cases

Muscular hypotonia of the trunk Muscular hypotonia Hypertelorism Abnormality of cardiovascular system morphology Hand polydactyly Microcephaly Short stature Cerebellar atrophy Abnormality of nervous system morphology Smooth philtrum Low-set ears Retinopathy Thrombocytopenia Irritability Growth delay Hyperhidrosis Cerebral cortical atrophy Vomiting Kyphosis Strabismus Cerebral atrophy Neonatal hypotonia High palate Hypertonia Elevated hepatic transaminase Finger syndactyly Dysphagia Polyhydramnios Severe global developmental delay Nystagmus Brachydactyly Delayed speech and language development Brachycephaly Pneumonia Short nose Long philtrum Feeding difficulties Myoclonus Babinski sign Blindness Abnormality of metabolism/homeostasis Posteriorly rotated ears Dystonia Micrognathia Intellectual disability, severe Gait disturbance Myopia Rigidity Flexion contracture Retinal degeneration Respiratory failure Bilateral sensorineural hearing impairment Tetraplegia Brain atrophy Abnormality of the cerebral white matter Peripheral demyelination Neurological speech impairment Developmental regression Pigmentary retinopathy Generalized-onset seizure EEG abnormality Spastic tetraplegia Diffuse hepatic steatosis Leukodystrophy Intellectual disability, progressive Abnormal electroretinogram Inverted nipples Abnormality of visual evoked potentials Decreased light- and dark-adapted electroretinogram amplitude CNS demyelination Tapetoretinal degeneration No social interaction Hypodontia Osteopenia Hypsarrhythmia Apnea Chronic diarrhea Abnormality of the liver Abnormal cardiac septum morphology Arthrogryposis multiplex congenita Malabsorption Cirrhosis Hepatic steatosis Abnormal bleeding Decreased antibody level in blood Focal-onset seizure Hip dysplasia Decreased fetal movement Pancytopenia Cholestasis Hypohidrosis Hepatosplenomegaly Lymphopenia Hyperbilirubinemia Abnormal intestine morphology Inflammation of the large intestine Loss of consciousness Combined immunodeficiency Neurodevelopmental delay Abnormal cortical gyration Proximal tubulopathy Impaired T cell function Micronodular cirrhosis Macrovesicular hepatic steatosis Gastrointestinal inflammation Abnormal T cell morphology Aggressive behavior Retrognathia Pectus carinatum Long fingers Hirsutism Single transverse palmar crease Delayed myelination Abnormality of extrapyramidal motor function Intellectual disability, profound Tetraparesis Hypertrichosis Progressive microcephaly Spastic tetraparesis Leukoencephalopathy Tented upper lip vermilion Poor suck Rocker bottom foot Progressive spasticity Hyperkeratosis Bulbar palsy Central hypotonia Hypomimic face Central apnea Exaggerated startle response Contractures of the large joints Progressive leukoencephalopathy Abnormal facial shape Anemia Intrauterine growth retardation Talipes equinovarus Diarrhea Immunodeficiency Recurrent infections Wide nasal bridge Mild short stature Hyperreflexia Polymicrogyria Urethral stricture Hydrometrocolpos Glandular hypospadias Neoplasm Hydrocephalus Arrhythmia High forehead Deeply set eye Wide mouth Toe syndactyly Facial asymmetry Joint hyperflexibility Full cheeks Ectopic anus Arnold-Chiari malformation Aplasia/Hypoplasia of the cerebellum Cutis marmorata Hypermelanotic macule Telangiectasia of the skin Foot polydactyly Nevus flammeus Arteriovenous malformation Cerebral ischemia Visceral angiomatosis Asymmetric growth Obesity Urogenital sinus anomaly Postaxial foot polydactyly Abnormality of the kidney Pancreatic fibrosis Syndactyly Cleft lip Narrow chest Oral cleft Pulmonary hypoplasia Ambiguous genitalia Short ribs Short long bone Preaxial polydactyly Femoral bowing Thoracic dysplasia Lateral clavicle hook Acetabular spurs Tarsal synostosis Cleft palate Cryptorchidism Atrial septal defect Patent ductus arteriosus Hydronephrosis Anal atresia Tetralogy of Fallot Postaxial hand polydactyly Aganglionic megacolon Multicystic kidney dysplasia Renal hypoplasia/aplasia Abnormality of the metacarpal bones Hypoplastic left heart Hypogonadism Ataxia Sensorineural hearing impairment Foot dorsiflexor weakness Low plasma citrulline Abnormality of the dentition Pes cavus Prominent forehead Skeletal dysplasia Umbilical hernia Leukemia Generalized tonic-clonic seizures Neutropenia Eczema Recurrent otitis media Gingival overgrowth Lower limb hyperreflexia Hyperglutaminemia Acute lymphoblastic leukemia Upper limb undergrowth Short 4th metacarpal Abnormality of chromosome segregation Short 5th metacarpal Ectopic calcification Lower limb hypertonia Giant platelets Median cleft palate Folate deficiency Hyposegmentation of neutrophil nuclei Short 3rd metacarpal Hearing impairment Episodic ammonia intoxication Protein avoidance Peripheral neuropathy Coma Anteverted nares Headache Hypospadias Encephalopathy Abnormal heart morphology Thin upper lip vermilion Carcinoma Mental deterioration Stroke Lethargy Confusion Hepatic failure Gliosis Hypoargininemia Aciduria Thick lower lip vermilion Pancreatitis Hyperammonemia Acute hepatic failure Alkalosis Episodic ataxia Cerebral edema Episodic vomiting Wide nasal base Paranoia Oroticaciduria Respiratory alkalosis Type II transferrin isoform profile


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