Growth delay, and Congenital diaphragmatic hernia

Diseases related with Growth delay and Congenital diaphragmatic hernia

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

Top matches:

Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.

CONGENITAL DIAPHRAGMATIC HERNIA Is also known as hemidiaphragm, agenesis of|dih|diaphragm, unilateral agenesis of|hernia, congenital diaphragmatic|hcd|cdh|diaphragmatic defect, congenital

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertension
  • Respiratory distress


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DIAPHRAGMATIC HERNIA

Low 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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

Other less relevant matches:

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

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

Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.

AXENFELD-RIEGER SYNDROME Is also known as axenfeld syndrome|anterior chamber cleavage syndrome|rieger syndrome, type 3|rieger syndrome|axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AXENFELD-RIEGER SYNDROME

Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013).For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES Is also known as urban-rifkin-davis syndrome|arcl1c|autosomal recessive cutis laxa type 1c|urds|cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Depressed nasal bridge


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 Is also known as aplcc|aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2

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

Top 5 symptoms//phenotypes associated to Growth delay and Congenital diaphragmatic hernia

Symptoms // Phenotype % cases
Hernia Very Common - Between 80% and 100% cases
Respiratory distress Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Congenital diaphragmatic hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation Cleft palate Short stature Malar flattening Midface retrusion Hearing impairment Failure to thrive Microcephaly Low-set ears Ventricular septal defect Hypertelorism Pulmonary hypoplasia Abnormal facial shape Patent ductus arteriosus Hypertension Posteriorly rotated ears Pulmonary artery stenosis Abnormal cardiac septum morphology

Rare Symptoms - Less than 30% cases

Patent foramen ovale Clinodactyly Epicanthus Respiratory failure Recurrent urinary tract infections Tetralogy of Fallot Polyhydramnios Microtia Wide nasal bridge Small for gestational age Depressed nasal bridge Macrocytic anemia Sandal gap Talipes equinovarus Feeding difficulties Broad neck Mandibulofacial dysostosis Convex nasal ridge Ureteral duplication Abnormal heart morphology Anemia Spontaneous abortion Sensorineural hearing impairment Hypospadias Pterygium Pulmonic stenosis Inguinal hernia Long philtrum Oligohydramnios Retrognathia Renal agenesis Gastroesophageal reflux Umbilical hernia Intellectual disability Abnormality of cardiovascular system morphology Telecanthus Visual impairment Short nose Aplasia/Hypoplasia of the iris Microphthalmia Hypoplasia of the corpus callosum Bronchomalacia Myopia Hypoplastic iris stroma Rieger anomaly Retinal vein occlusion Generalized hypotonia Rectal prolapse Periorbital edema Ureteral stenosis Prematurely aged appearance Bladder diverticulum Microretrognathia Hyperactivity Sloping forehead Sparse hair Joint laxity Hydronephrosis Large fontanelles Macrotia Peripheral pulmonary artery stenosis Cutis laxa Laryngomalacia Dilatation Pyloric stenosis Emphysema Tracheomalacia Premature skin wrinkling Upslanted palpebral fissure Neonatal hypotonia High forehead Microcolon Single umbilical artery Mild microcephaly Prolonged partial thromboplastin time Interrupted aortic arch Perimembranous ventricular septal defect Biliary atresia Cervical ribs Pancreatic hypoplasia Intermittent diarrhea Neonatal insulin-dependent diabetes mellitus Exocrine pancreatic insufficiency Left-to-right shunt Aplasia/Hypoplasia of the gallbladder Anterior pituitary agenesis Hypoplasia of right ventricle Pancreatic aplasia Double outlet left ventricle Hypoplastic tricuspid valve Congenital defect of the pericardium Colon perforation Truncus arteriosus Congenital hypothyroidism Highly arched eyebrow Abnormality of the skeletal system Delayed myelination Wide intermamillary distance Optic disc pallor Ventricular hypertrophy Pulmonary arterial hypertension Short chin Erythroderma Aplasia cutis congenita Seizures Cerebral atrophy Transposition of the great arteries Diabetes mellitus Abnormality of the hypothalamus-pituitary axis Elevated hepatic transaminase Gliosis Intestinal malrotation Hepatitis Cardiac arrest Hyperbilirubinemia Hyperglycemia Glycosuria Abnormal anterior chamber morphology Multiple pterygia Anterior segment developmental abnormality Ectopic kidney Submucous cleft hard palate Severe sensorineural hearing impairment Granulocytopenia Respiratory insufficiency Jaundice Conductive hearing impairment Choanal atresia Atresia of the external auditory canal Increased mean corpuscular volume Sparse eyebrow Cleft soft palate Reticulocytopenia Ventriculomegaly Immunodeficiency Recurrent respiratory infections Protruding ear Long face Asthma Ambiguous genitalia Mixed hearing impairment Sparse and thin eyebrow Hypertrichosis Oral cleft Syndactyly Polydactyly Abnormality of digit Developmental stagnation Abnormality of the diaphragm Agenesis of the diaphragm Posterolateral diaphragmatic hernia Cleft lip Sex reversal Webbed neck Abnormality of the adrenal glands Abnormality of the penis Ovotestis Hypoplasia of the bladder Bilateral lung agenesis Malrotation of small bowel Adrenal gland agenesis Downslanted palpebral fissures Bifid uvula Decreased fetal movement Abnormal lung morphology Peters anomaly Hypoplasia of the maxilla Hypoplastic heart Amyoplasia Abnormal cervical curvature Prominent forehead Glaucoma Proptosis Everted lower lip vermilion Hypodontia Microdontia Meningocele Bilateral sensorineural hearing impairment Cerebellar vermis hypoplasia Redundant skin Anal stenosis Aniridia Posterior embryotoxon Hypoplasia of the iris Ectopia pupillae Concave nasal ridge Fetal akinesia sequence Malignant hyperthermia Pachygyria Flexion contracture Narrow face Multicystic kidney dysplasia Clitoral hypertrophy Cortical gyral simplification Scaphocephaly Recurrent lower respiratory tract infections Chronic lung disease Pulmonary artery hypoplasia Fever Thin ribs Edema Depressed nasal ridge Lymphedema Joint dislocation Increased susceptibility to fractures Akinesia Short finger Vertebral fusion Cystic hygroma Total absence of the pericardium


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