Intrauterine growth retardation, and Postaxial polydactyly

Diseases related with Intrauterine growth retardation and Postaxial polydactyly

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Postaxial polydactyly that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Abnormal facial shape
  • Intrauterine growth retardation
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 22; JBTS22

Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 2; MKS2 Is also known as meckel-gruber syndrome, type 2

Related symptoms:

  • Growth delay
  • Cleft palate
  • Intrauterine growth retardation
  • Microphthalmia
  • Polydactyly


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 2; MKS2

Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

Other less relevant matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

Medium match BRESEK SYNDROME

X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 Is also known as rhpd

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Macrocephaly


SOURCES: MESH OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 1; HLS1

Medium 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

Medium match TARP SYNDROME

TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.

TARP SYNDROME Is also known as pierre robin syndrome-congenital heart defect-talipes syndrome|pierre robin sequence-congenital heart defect-talipes syndrome|talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava|talipes equinovarus-atrial

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TARP 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

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Postaxial polydactyly

Symptoms // Phenotype % cases
Polydactyly Very Common - Between 80% and 100% cases
Cleft palate Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Postaxial hand polydactyly Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Postaxial polydactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Dandy-Walker malformation Microphthalmia Atrial septal defect Talipes equinovarus Cryptorchidism Seizures Renal dysplasia Low-set ears Hydrocephalus Ventricular septal defect Microcephaly Abnormal heart morphology Bile duct proliferation Hearing impairment Anencephaly Intellectual disability Encephalocele Renal cyst Failure to thrive

Rare Symptoms - Less than 30% cases

Hypospadias Hypertelorism Hepatomegaly Abnormality of cardiovascular system morphology Abnormality of the kidney Cirrhosis Hepatic failure Pulmonary hypoplasia Abnormal cortical gyration Cholestasis Polyhydramnios Situs inversus totalis Upper limb undergrowth Absent septum pellucidum Heterotopia Short sternum Hydronephrosis Micrognathia Optic nerve hypoplasia Generalized hypotonia Bowing of the long bones Foot polydactyly Renal hypoplasia Epicanthus Syndactyly Acidosis Neonatal hypotonia Aggressive behavior Hypoplasia of the corpus callosum Molar tooth sign on MRI Abnormal facial shape Meningoencephalocele Postaxial foot polydactyly Meningocele Occipital encephalocele Cerebellar hemorrhage Glossoptosis Delayed skeletal maturation Cutaneous syndactyly Abnormality of the dentition Abnormality of the skeletal system Hypoplasia of the radius Athetosis 2-3 toe syndactyly Underdeveloped supraorbital ridges Abnormal hair pattern Pierre-Robin sequence Short stature Cleft soft palate Deep palmar crease Strabismus Large fontanelles Abnormal corpus callosum morphology Persistent left superior vena cava Prominent antihelix Tongue nodules Horseshoe kidney Tetralogy of Fallot Short palpebral fissure High palate Abnormal intestine morphology Inflammation of the large intestine Loss of consciousness Combined immunodeficiency Neurodevelopmental delay Proximal tubulopathy Impaired T cell function Micronodular cirrhosis Macrovesicular hepatic steatosis Gastrointestinal inflammation Abnormal T cell morphology Type II transferrin isoform profile Wide nasal bridge Cerebellar vermis hypoplasia Optic atrophy Anteverted nares Pectus excavatum Clinodactyly Cerebellar hypoplasia Posteriorly rotated ears Respiratory failure Microtia Toe syndactyly Talipes Single transverse palmar crease Round face Skeletal dysplasia Severe short stature Metabolic acidosis Pectus carinatum Abnormality of female internal genitalia Short thorax Agenesis of permanent teeth Atrioventricular canal defect Disproportionate short stature Abnormal heart valve morphology Natal tooth Abnormality of the ureter Synostosis of carpal bones Aplasia/Hypoplasia of the lungs Acute leukemia Hypoplastic iliac wing Thoracic dysplasia Abnormal hair quantity Hypoplastic left heart Epispadias Horizontal ribs Abnormal oral mucosa morphology Neonatal short-limb short stature Abnormality of bone marrow cell morphology Common atrium Abnormal oral frenulum morphology Conical incisor Capitate-hamate fusion Congenital megaureter Short iliac bones Acetabular spurs Abnormality of the alveolar ridges Thoracic hypoplasia Hydroureter Nail dystrophy Microdontia Narrow chest Genu valgum Lymphopenia Micromelia Cleft upper lip Thin vermilion border Short distal phalanx of finger Delayed eruption of teeth Hypodontia Ectodermal dysplasia Nail dysplasia Renal agenesis Limb undergrowth Dextrocardia Abnormality of the hair Short ribs Abnormality of the nail Abnormality of dental enamel Abnormality of the fingernails Renal hypoplasia/aplasia Short long bone Abnormality of pelvic girdle bone morphology Hand polydactyly Cubitus valgus Hypoplastic toenails Mild short stature Emphysema Hyperbilirubinemia Abnormal bleeding Hypohidrosis Enlarged kidney Depressed nasal bridge Intestinal malrotation Oligohydramnios Sensorineural hearing impairment Hepatic fibrosis Aortic valve stenosis Agenesis of cerebellar vermis Spontaneous abortion Type I diabetes mellitus Polycystic kidney dysplasia Preauricular pit Polysplenia Upslanted palpebral fissure Asplenia Biliary cirrhosis Pancreatic cysts Hepatic cysts Portal fibrosis Potter facies Pancreatic fibrosis Glutaric acidemia Multiple glomerular cysts Ureteral atresia Pancreatic dysplasia Macrocephaly Polymicrogyria Stage 5 chronic kidney disease Undetectable electroretinogram Decreased testicular size Proximal renal tubular acidosis Scoliosis Poor speech Intellectual disability, severe Alopecia Protruding ear Hypotrichosis Ichthyosis Iris coloboma Vesicoureteral reflux Convex nasal ridge Aganglionic megacolon Hyperactivity Hemivertebrae Plagiocephaly Synophrys Abnormality of brain morphology Hypoplasia of the bladder Flexion contracture Short neck Respiratory insufficiency Renal insufficiency Patent ductus arteriosus Diabetes mellitus Jaundice Agenesis of corpus callosum Cleft lip Chronic diarrhea Hepatosplenomegaly Cerebellar atrophy Vomiting Diarrhea Immunodeficiency Cerebral atrophy Recurrent infections Thrombocytopenia Hyperhidrosis Cerebral cortical atrophy Hyperkeratosis Retrognathia Elevated hepatic transaminase Anemia Muscular hypotonia of the trunk Abnormality of the liver Abnormal cardiac septum morphology Arthrogryposis multiplex congenita Malabsorption Hepatic steatosis Renal tubular acidosis Decreased antibody level in blood Focal-onset seizure Hip dysplasia Decreased fetal movement Pancytopenia Ventriculomegaly Coloboma Abnormality of the pinna Tracheal stenosis Oral cleft Premature birth Omphalocele Retinal dysplasia Holoprosencephaly Preaxial polydactyly Preaxial hand polydactyly Abnormal lung lobation Median cleft lip Broad neck Bilateral cleft lip Bilateral cleft lip and palate Preaxial foot polydactyly Proximal tibial hypoplasia Complete atrioventricular canal defect Bifid nose Abnormal vagina morphology Arrhinencephaly Accessory spleen Severe hydrocephalus Laryngeal hypoplasia Duplication of phalanx of hallux Bifid uterus Agenesis of the diaphragm Adrenal gland dysgenesis Cleft in skull base Cone-shaped epiphyses of phalanges 2 to 5


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