Intrauterine growth retardation, and Coarctation of aorta

Diseases related with Intrauterine growth retardation and Coarctation of aorta

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

Top matches:

Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Abnormal facial shape
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Medium match CHILD SYNDROME

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.

CHILD SYNDROME Is also known as child syndrome|child nevus|ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs|congenital hemidysplasia with ichthyosiform nevus and limbs defects

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHILD SYNDROME

Other less relevant matches:

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

MATTHEW-WOOD SYNDROME Is also known as anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm|syndromic microphthalmia type 9|mcops9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|anophthalmia-pulmonary hypoplasia syndrom

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATTHEW-WOOD SYNDROME

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks|meckel-gruber syndrome, type 1|meckel syndrome|gruber syndrome|dysencephalia splanchnocystica|mes|meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 1; MKS1

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|fads|pena-shokeir syndrome type 1|fetal akinesia sequence|pena-shokeir syndrome, type i

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA DEFORMATION SEQUENCE

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.

CATEL-MANZKE SYNDROME Is also known as index finger anomaly-pierre robin syndrome|index finger anomaly with pierre robin syndrome|pierre robin syndrome-hyperphalangy-clinodactyly syndrome|micrognathia digital syndrome|palatodigital syndrome, catel-manzke type|pierre robin syndrome with hyperph

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATEL-MANZKE SYNDROME

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Coarctation of aorta

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Intellectual disability Hydronephrosis High palate Scoliosis Abnormal cardiac septum morphology Camptodactyly Ventricular septal defect Atrial septal defect Edema Cleft upper lip Microphthalmia Patent ductus arteriosus Cleft palate Microcephaly Short neck Global developmental delay Pulmonary hypoplasia Inguinal hernia Pectus excavatum Intestinal malrotation Hearing impairment Deeply set eye Hydrocephalus Generalized hypotonia Adrenal hypoplasia Joint laxity Oligohydramnios Abnormality of cardiovascular system morphology Seizures Abnormality of the genital system Abnormal heart morphology Cerebellar hypoplasia Iris coloboma Talipes equinovarus Strabismus Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Meningocele Joint hyperflexibility Renal agenesis Agenesis of corpus callosum Cleft lip Polydactyly Ichthyosis Umbilical hernia Clinodactyly Wide nasal bridge Thyroid hypoplasia Vesicoureteral reflux Ankyloglossia Truncus arteriosus Rocker bottom foot Epicanthus Retrognathia Ventriculomegaly Clinodactyly of the 5th finger Narrow mouth Pectus carinatum Single ventricle Blepharophimosis Coloboma Hypoplasia of the corpus callosum Abnormality of the uterus Respiratory insufficiency Overriding aorta Muscular hypotonia Sloping forehead Mild intrauterine growth retardation Respiratory distress Talipes Proptosis Camptodactyly of finger Macrocephaly Premature birth Pancytopenia Long philtrum Anemia Depressed nasal bridge Foot polydactyly Finger clinodactyly Splenomegaly Cystic hygroma Small for gestational age Anencephaly Wide mouth Abnormality of the kidney Thrombocytopenia Wide anterior fontanel Hepatic fibrosis Posteriorly rotated ears Webbed neck Dandy-Walker malformation Abnormality of the skeletal system Dextrocardia Arachnodactyly Hydrops fetalis Anal atresia Intellectual disability, moderate Attention deficit hyperactivity disorder Autistic behavior Hypoplasia of the bladder Elevated amniotic fluid alpha-fetoprotein Olfactory lobe agenesis Frontal bossing Anxiety Large placenta Aggressive behavior Autism Depressivity Kyphosis Hyperactivity Skeletal muscle atrophy Peripheral neuropathy Cataract Occipital meningocele Craniorachischisis Ptosis Behavioral abnormality Slender long bone Sensorineural hearing impairment Fetal akinesia sequence Hypokinesia Generalized amyotrophy Thoracic hypoplasia Multiple joint contractures Akinesia Congenital contracture Absent septum pellucidum Pterygium Abnormality of pelvic girdle bone morphology Short palpebral fissure Decreased fetal movement Thin ribs Fatigable weakness Abnormality of abdomen morphology Depressed nasal tip Intestinal hypoplasia Elbow ankylosis Absent palmar crease Polyhydramnios Telecanthus Arthrogryposis multiplex congenita Small placenta Short umbilical cord High, narrow palate Excessive daytime somnolence Ulnar deviation of the hand or of fingers of the hand Fractures of the long bones Hydranencephaly Cavum septum pellucidum Ulnar deviation of the hand Overlapping fingers Toe syndactyly Abnormality of epiphysis morphology Joint hypermobility Hypoplasia of the radius Absent thumb Vertebral fusion Colon cancer Congenital glaucoma Delayed cranial suture closure Triphalangeal thumb Myelodysplasia Abnormality of the hand Abnormal dermatoglyphics Acute myeloid leukemia Bone marrow hypocellularity Short thumb Depressed nasal ridge Neutropenia Nausea Nausea and vomiting Narrow chest Lethargy Leukemia Myeloid leukemia Macrocytic anemia Glaucoma Everted upper lip vermilion Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Hypoplastic anemia Persistence of hemoglobin F Branchial cyst Erythroid hypoplasia Partial duplication of thumb phalanx Congenital hypoplastic anemia Thrombocytosis Parietal foramina Unilateral cleft lip Reticulocytopenia Anemia of inadequate production Increased mean corpuscular volume Aplastic anemia 11 pairs of ribs Osteosarcoma Hypoplastic ilia Pallor Congestive heart failure Bulbous nose Brachydactyly Single transverse palmar crease Highly arched eyebrow Short distal phalanx of finger Joint stiffness Postnatal growth retardation Abnormality of the pinna Low-set, posteriorly rotated ears Upslanted palpebral fissure Malar flattening Interrupted aortic arch Small nail Broad hallux phalanx Transposition of the great arteries High hypermetropia Broad hallux Hand polydactyly Schizophrenia Broad thumb Sleep disturbance Short foot Full cheeks Hypertrichosis Vomiting Short hallux Fatigue Hyperphalangy of the 2nd finger Ulnar deviation of the 2nd finger Radial deviation of the 2nd finger Oral synechia Prominent antihelix Knee dislocation Metatarsus valgus Thin eyebrow Pierre-Robin sequence Decreased body weight Glossoptosis Short humerus Short middle phalanx of finger Chronic otitis media Adducted thumb Narrow palpebral fissure Joint dislocation Short toe Cerebral hypoplasia Urethral obstruction Syndactyly Neural tube defect Congenital ichthyosiform erythroderma Subvalvular aortic stenosis Hypoplastic pelvis Hypoplastic scapulae Myelomeningocele Parakeratosis Epiphyseal stippling Short clavicles Erythroderma Aplasia/hypoplasia of the extremities Renal hypoplasia/aplasia Congenital hip dislocation Short ribs Abnormality of the nail Cyanosis Nevus Hypotrichosis Vertebral hypoplasia Aplasia/Hypoplasia involving the central nervous system Hyperkeratosis Congenital diaphragmatic hernia Optic nerve hypoplasia Abnormality of the genitourinary system Horseshoe kidney Abnormal lung morphology Renal hypoplasia Intellectual disability, profound Bilateral sensorineural hearing impairment Tetralogy of Fallot Parachute mitral valve Pulmonic stenosis Protruding ear Respiratory failure Brachycephaly Severe short stature Hernia Elevated 8(9)-cholestenol Elevated 8-dehydrocholesterol Erythema Alopecia Hypoplasia of the uterus Long nose Synophrys Short philtrum Hepatosplenomegaly Hepatomegaly Narrow maxilla Soft skin Narrow nose Cutis marmorata Thin vermilion border Short chin Pointed chin Dental crowding Thin skin Carious teeth Broad forehead Constipation Short nose Cirrhosis Triangular face Intellectual disability, mild Premature skin wrinkling Abnormality of glutamine metabolism Increased serum bile acid concentration Abnormality of the clitoris Infra-orbital crease Functional respiratory abnormality Micronodular cirrhosis Biventricular hypertrophy Clitoral hypertrophy Abnormal bleeding Patent foramen ovale Poor suck Deep philtrum Cutis laxa Situs inversus totalis Decreased liver function Telangiectasia Asthma Anophthalmia Hiatus hernia Urethral atresia Encephalocele Polycystic kidney dysplasia Arnold-Chiari malformation Multicystic kidney dysplasia Spontaneous abortion Spina bifida Renal dysplasia Bowing of the long bones Omphalocele Radial deviation of finger Hypotelorism Postaxial hand polydactyly Renal cyst Postaxial polydactyly Dilatation Hypertensive crisis Diffuse mesangial sclerosis Preaxial polydactyly Hydroureter Corpus callosum atrophy Ambiguous genitalia, male Meningoencephalocele Lobulated tongue Elevated alpha-fetoprotein Ambiguous genitalia, female Accessory spleen Cerebellar dysplasia Portal fibrosis Cystic renal dysplasia External genital hypoplasia Bile duct proliferation Abnormality of the larynx Breech presentation Asplenia Single umbilical artery Abnormality of the ureter Natal tooth Occipital encephalocele Hand clenching Cortical gyral simplification Pulmonary artery atresia Bilateral lung agenesis Nystagmus Agenesis of pulmonary vessels Abnormal spleen morphology Hypoplastic left atrium Hypoplastic spleen Aplasia/Hypoplasia of the pancreas Right aortic arch with mirror image branching Pulmonary artery hypoplasia Delayed speech and language development Renal malrotation Pelvic kidney Annular pancreas Abnormality of the diaphragm Duodenal stenosis Diaphragmatic eventration Bilateral microphthalmos Bicornuate uterus Spasticity Visual impairment Hypoplastic left heart Pachygyria Focal segmental glomerulosclerosis Glomerulosclerosis Hypoalbuminemia Lissencephaly Hypocalcemia Leukodystrophy Postnatal microcephaly Nephrotic syndrome Anteverted nares Narrow forehead Convex nasal ridge Stage 5 chronic kidney disease Hip dislocation Proteinuria Midface retrusion Cerebral atrophy Cerebellar atrophy Hypoplastic sacral vertebrae


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