Intrauterine growth retardation, and Congenital diaphragmatic hernia

Diseases related with Intrauterine growth retardation and Congenital diaphragmatic hernia

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

Top matches:

Medium match SERKAL SYNDROME

SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.

SERKAL SYNDROME Is also known as serkal syndrome|sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Related symptoms:

  • Growth delay
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SERKAL 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).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

Other less relevant matches:

Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.

LETHAL MULTIPLE PTERYGIUM SYNDROME Is also known as lmps|pterygium syndrome, multiple, lethal type|autosomal recessive lethal multiple pterygium syndrome

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL MULTIPLE PTERYGIUM SYNDROME

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).

PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME Is also known as pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease|pancreatic agenesis and congenital heart defects|pachd|yorifuji-okuno syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Failure to thrive


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME

Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies|jarcho-levin syndrome|spondylothoracic dysplasia|spondylothoracic dysostosis|costovertebral dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS

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

8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.

8P23.1 MICRODELETION SYNDROME Is also known as del(8)(p23.1)|monosomy 8p23.1

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 8P23.1 MICRODELETION SYNDROME

Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.

COFFIN-SIRIS SYNDROME Is also known as css

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about COFFIN-SIRIS SYNDROME

Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.

PHOCOMELIA, SCHINZEL TYPE Is also known as al-awadi/raas-rothschild syndrome|aarrs|lphas|congenital absence of ulna and fibula|aplasia/hypoplasia of limbs and pelvis|al awadi-raas-rothschild syndrome|severe limb deficit|limb/pelvis-hypoplasia/aplasia syndrome|schinzel phocomelia syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PHOCOMELIA, SCHINZEL TYPE

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Congenital diaphragmatic hernia

Symptoms // Phenotype % cases
Hernia Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Congenital diaphragmatic hernia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Cleft palate Cryptorchidism Ventricular septal defect Abnormality of cardiovascular system morphology Failure to thrive Hypospadias Epicanthus Global developmental delay Wide nasal bridge Patent ductus arteriosus Respiratory distress Atrial septal defect Intellectual disability Inguinal hernia Short neck Seizures Respiratory insufficiency Flexion contracture Pulmonary hypoplasia Hearing impairment Abnormal facial shape Meningocele Tetralogy of Fallot Recurrent respiratory infections Respiratory failure Protruding ear Pulmonary artery stenosis Pulmonic stenosis Abnormal cardiac septum morphology

Rare Symptoms - Less than 30% cases

Depressed nasal ridge Abnormality of the skeletal system Abnormal heart morphology Intestinal malrotation Kyphosis Patent foramen ovale Abnormality of the intervertebral disk Pectus carinatum Strabismus High palate Hydronephrosis Hypoplasia of the corpus callosum Muscular hypotonia Short nose Spina bifida occulta Transposition of the great arteries Hemivertebrae Polydactyly Severe short stature Abnormal lung morphology Depressed nasal bridge Scoliosis Single umbilical artery Truncus arteriosus Pulmonary artery hypoplasia Umbilical hernia Small for gestational age Ambiguous genitalia Microtia Bilateral lung agenesis Ectopic kidney Talipes equinovarus Ventriculomegaly Broad neck Polyhydramnios Oligohydramnios Long face Prominent sternum Broad hallux phalanx External ear malformation Biparietal narrowing Atrioventricular canal defect Aplasia/Hypoplasia involving the pelvis Aplasia/Hypoplasia of the sacrum Hypoplastic left heart Proximal placement of thumb Broad thumb Wide intermamillary distance Full cheeks Abnormal aortic morphology Cataract Enlarged thorax Aplasia/Hypoplasia of metatarsal bones Occipital meningocele Carpal bone aplasia Thick eyebrow Joint hyperflexibility Aplasia/Hypoplasia of the phalanges of the toes Short philtrum Wide mouth Nystagmus Acrania Rectal fistula Feeding difficulties in infancy Coarse facial features Abnormality of the dentition Ptosis Thin vermilion border Tapered finger Hypertrophic cardiomyopathy Poor speech Right aortic arch with mirror image branching Agenesis of pulmonary vessels Abnormal spleen morphology Hypoplastic left atrium Hypoplastic spleen Aplasia/Hypoplasia of the pancreas Mild intrauterine growth retardation Renal malrotation Humeroulnar synostosis Pelvic kidney Single ventricle Overriding aorta Annular pancreas Abnormality of the diaphragm Duodenal stenosis Lower limb phocomelia Aplasia/Hypoplasia of the tarsal bones Prominent nasal bridge Weight loss Attention deficit hyperactivity disorder Dandy-Walker malformation Deeply set eye Pes planus Pilonidal sinus High forehead Upslanted palpebral fissure Downslanted palpebral fissures Obesity Aplasia/Hypoplasia of the pubic bone Aplastic pubic bones Anteriorly displaced genitalia Aplasia/Hypoplasia involving the carpal bones Intellectual disability, mild Behavioral abnormality Short distal phalanx of finger Coxa valga Thick lower lip vermilion Elbow ankylosis Anonychia Tracheoesophageal fistula Unilateral renal agenesis Hypoplasia of the radius Scrotal hypoplasia Narrow palate Elbow flexion contracture Disproportionate short stature Hydrops fetalis Bowing of the long bones Encephalocele Split hand Small nail Hypoplasia of penis Femoral bowing Ectrodactyly Nail dysplasia Broad ribs Humeroradial synostosis Phocomelia Fibular aplasia Hand oligodactyly Aplasia of the uterus Abnormality of tibia morphology Hypoplastic pelvis Hypoplastic nipples Calvarial skull defect Long ear Barrel-shaped chest Aplasia of the ulna Radial bowing Oligodactyly Aplasia/Hypoplasia involving the metacarpal bones Broad clavicles Long eyelashes Abnormality of the hip bone Hypoplastic fifth toenail Aplasia/Hypoplasia of the patella Slow-growing hair Lacrimation abnormality Abnormality of the clavicle Partial agenesis of the corpus callosum Cutis marmorata Aplasia/Hypoplasia of the distal phalanx of the 5th toe Aplasia/Hypoplasia of the cerebellum Elbow dislocation Renal hypoplasia/aplasia Foot oligodactyly Generalized hirsutism Bilateral single transverse palmar creases Hypoplastic fifth fingernail Aplasia/Hypoplasia of the distal phalanx of the 5th finger Aplasia/hypoplasia of the femur Anal atresia Renal cyst Bilateral microphthalmos Short foot High, narrow palate Micromelia Decreased calvarial ossification Talipes Aplasia/Hypoplasia of the phalanges of the hand Hip dislocation Congenital pseudoarthrosis of the clavicle Telecanthus Skeletal dysplasia Macrotia Micropenis Hypoplastic sacrum Diaphragmatic eventration Rib fusion Bicornuate uterus Akinesia Fetal akinesia sequence Malignant hyperthermia Thin ribs Cystic hygroma Vertebral fusion Short finger Pterygium Hypoplastic heart Increased susceptibility to fractures Joint dislocation Lymphedema Edema Fever Hypertelorism Multiple pterygia Amyoplasia Recurrent lower respiratory tract infections Hepatitis Exocrine pancreatic insufficiency Congenital hypothyroidism Glycosuria Hyperglycemia Hyperbilirubinemia Cardiac arrest Gliosis Abnormal cervical curvature Elevated hepatic transaminase Neonatal hypotonia Diabetes mellitus Cerebral atrophy Hypertension Feeding difficulties Chronic lung disease Scaphocephaly Prolonged partial thromboplastin time Hypoplasia of the bladder Posteriorly rotated ears Midface retrusion Malar flattening Anemia Adrenal gland agenesis Malrotation of small bowel Ovotestis Conductive hearing impairment Abnormality of the penis Abnormality of the adrenal glands Sex reversal Renal agenesis Oral cleft Cleft lip Jaundice Choanal atresia Cortical gyral simplification Decreased fetal movement Clitoral hypertrophy Multicystic kidney dysplasia Narrow face Recurrent urinary tract infections Pachygyria Hypertrichosis Convex nasal ridge Atresia of the external auditory canal Asthma Immunodeficiency Mandibulofacial dysostosis Reticulocytopenia Cleft soft palate Increased mean corpuscular volume Macrocytic anemia Mild microcephaly Ureteral duplication Abnormality of the uterus Abnormality of female internal genitalia Generalized hypotonia Rib segmentation abnormalities Abnormality of the odontoid process Block vertebrae Cervical C2/C3 vertebral fusion Urogenital fistula Anomalous pulmonary venous return Brachycephaly Disproportionate short-trunk short stature Double outlet right ventricle Abnormality of the ureter Abnormality of immune system physiology Vertebral segmentation defect Prominent occiput Microphthalmia Abnormality of the kidney Preaxial polydactyly Abnormality of the genitourinary system Pulmonary artery atresia Hiatus hernia Hypoplasia of the uterus Rocker bottom foot Anophthalmia Optic nerve hypoplasia Horseshoe kidney Camptodactyly Abnormality of the genital system Renal hypoplasia Intellectual disability, profound Coarctation of aorta Bilateral sensorineural hearing impairment Vesicoureteral reflux Blepharophimosis Short thorax Abnormality of the urinary system Interrupted aortic arch Left-to-right shunt Hypoplastic tricuspid valve Double outlet left ventricle Pancreatic aplasia Hypoplasia of right ventricle Anterior pituitary agenesis Aplasia/Hypoplasia of the gallbladder Neonatal insulin-dependent diabetes mellitus Colon perforation Microcolon Intermittent diarrhea Pancreatic hypoplasia Cervical ribs Biliary atresia Perimembranous ventricular septal defect Congenital defect of the pericardium Total absence of the pericardium Scapular winging Broad forehead Spina bifida Abnormal vertebral morphology Abnormal form of the vertebral bodies Abnormality of the ribs Confusion Finger syndactyly Camptodactyly of finger Macrocephaly Respiratory tract infection Hyperlordosis Low-set, posteriorly rotated ears Kyphoscoliosis Long philtrum Congestive heart failure Anteverted nares Colonic stenosis


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