Intrauterine growth retardation, and Inguinal hernia

Diseases related with Intrauterine growth retardation and Inguinal hernia

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

Top matches:

High match MONOSOMY 5P

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}.

PYCR1-RELATED DE BARSY SYNDROME Is also known as pycr1 deficiency|pyrroline-5-carboxylate reductase 1 deficiency|de barsy syndrome b

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYCR1-RELATED DE BARSY SYNDROME

Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

Other less relevant matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

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

Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

DIAPHANOSPONDYLODYSOSTOSIS Is also known as vertebral ossification, defect in, with nephrogenic rests

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIAPHANOSPONDYLODYSOSTOSIS

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

High match LEPRECHAUNISM

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

VACTERL WITH HYDROCEPHALUS Is also known as vacterl-h|sujansky-leonard syndrome

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VACTERL WITH HYDROCEPHALUS

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

Symptoms // Phenotype % cases
Hernia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Feeding difficulties Failure to thrive Generalized hypotonia Muscular hypotonia Respiratory insufficiency Cutis laxa Oligohydramnios Hip dislocation Hypertelorism Scoliosis Cryptorchidism Postnatal growth retardation Seizures Large fontanelles Short stature Umbilical hernia Depressed nasal bridge Abnormality of cardiovascular system morphology High palate Cleft palate Low-set, posteriorly rotated ears Short neck

Rare Symptoms - Less than 30% cases

Osteopenia Recurrent infections Cerebral atrophy Hypertension Anemia Respiratory failure Severe intrauterine growth retardation Micrognathia Pulmonary hypoplasia Polymicrogyria Confusion Abnormality of the ribs Vertebral segmentation defect Feeding difficulties in infancy Short thorax Elevated hepatic transaminase Congenital diaphragmatic hernia Short nose Abnormal form of the vertebral bodies Severe short stature Hyperglycemia Recurrent respiratory infections Small for gestational age Abnormal vertebral morphology Hypospadias Spina bifida Hemivertebrae Disproportionate short-trunk short stature Abnormal heart morphology Atrial septal defect Respiratory distress Reduced subcutaneous adipose tissue Broad forehead Single umbilical artery Talipes equinovarus Macrocephaly Cholestasis Long philtrum Hypoglycemia Anteverted nares Finger syndactyly Abnormality of the skeletal system Deeply set eye Pes planus Prominent forehead Dermal translucency Strabismus Thin skin Abnormal facial shape Downslanted palpebral fissures Frontal bossing Epicanthus Renal hypoplasia/aplasia Occipital encephalocele Polydactyly Abnormality of the vertebral column Absent thumb Kyphoscoliosis Hyperlordosis Respiratory tract infection Camptodactyly of finger Tracheoesophageal fistula Anophthalmia Hypoplasia of the radius Encephalocele Protuberant abdomen Abnormality of the outer ear Abnormality of the optic nerve Scapular winging Abnormality of the fallopian tube Spina bifida occulta Abnormality of the urinary system Preaxial polydactyly Prominent occiput Abnormality of immune system physiology Renal hypoplasia Abnormality of the ureter Double outlet right ventricle Esophageal atresia Kyphosis Aqueductal stenosis Abnormal vertebral segmentation and fusion Radial club hand Enlarged kidney Multiple renal cysts Bell-shaped thorax Myelomeningocele Missing ribs Hypoplastic fingernail Arrhinencephaly Cystic renal dysplasia Enlarged thorax Increased nuchal translucency Narrow pelvis bone Tracheomalacia Absent or minimally ossified vertebral bodies Absence of the sacrum Nephroblastomatosis Unossified vertebral bodies Nephrogenic rest Abnormal liver lobulation Lumbosacral meningocele Absent in utero rib ossification Unossified sacrum Absent in utero ossification of vertebral bodies Femoral hernia Rib fusion Intralobar nephroblastomatosis Congestive heart failure Anotia Meningocele Abnormality of the intervertebral disk Anomalous pulmonary venous return Lipoatrophy Polyhydramnios Microphthalmia Hyperinsulinemia Hydrocephalus Asymmetry of the breasts Precocious puberty Prominent nipples Adipose tissue loss Elfin facies Clitoral hypertrophy Large hands Glucose intolerance Decreased muscle mass Hypermelanotic macule Hearing abnormality Acanthosis nigricans Thickened nuchal skin fold Severe failure to thrive Long foot Concave nasal ridge Small face Ovarian cyst Fasting hypoglycemia Long penis Thick nasal alae Postprandial hyperglycemia Female pseudohermaphroditism Abnormality of the abdominal wall Pancreatic islet-cell hyperplasia Absence of subcutaneous fat Cachexia Generalized hirsutism Abnormality of female internal genitalia Macrotia Urogenital fistula Cervical C2/C3 vertebral fusion Block vertebrae Renal agenesis Abnormality of the odontoid process Rib segmentation abnormalities Cognitive impairment Microcornea Anal atresia Skeletal muscle atrophy Dysphagia Delayed skeletal maturation Hyperkeratosis Proptosis Wide mouth Gynecomastia Hirsutism Thick vermilion border High, narrow palate Abdominal distention Nail dysplasia Type II diabetes mellitus Epidermal acanthosis Abnormality of the kidney Thick lower lip vermilion Retrognathia Hypertrichosis Gingival overgrowth Hepatic fibrosis Insulin resistance Thoracic hypoplasia Exocrine pancreatic insufficiency Hammertoe Lipodystrophy Narrow mouth Carious teeth Joint hypermobility Flat face Dandy-Walker malformation High myopia Pachygyria Wide anterior fontanel Congenital hip dislocation Coarse hair Growth abnormality Redundant skin Prominent supraorbital ridges Brittle hair Oxycephaly Malar flattening Cirrhosis Hypocalcemia Decreased liver function Abnormal lung morphology Pancytopenia Ascites Hepatic steatosis Abnormality of eye movement Abnormal isoelectric focusing of serum transferrin Cough Abnormality of the liver Abnormality of the eye Joint laxity Gastroesophageal reflux Vomiting Midface retrusion Myopia Hypoalbuminemia Delayed speech and language development Wide nasal bridge Intellectual disability, severe Severe global developmental delay Joint hyperflexibility Small hand Recurrent fractures Round face Preauricular skin tag Microretrognathia Abnormality of the voice High pitched voice Abnormality of bone mineral density Cat cry Flexion contracture Posteriorly rotated ears Motor delay Elbow flexion contracture Narrow nasal ridge Excessive wrinkled skin Congenital glaucoma Athetosis Pyloric stenosis Narrow palpebral fissure Fine hair Osteoporosis Blue sclerae Underdeveloped nasal alae Thin vermilion border Blepharophimosis Sparse hair Glaucoma Tachypnea Portal hypertension Renal dysplasia Intermittent diarrhea Patent foramen ovale Glycosuria Transposition of the great arteries Congenital hypothyroidism Pulmonary artery stenosis Truncus arteriosus Mild microcephaly Prolonged partial thromboplastin time Ureteral duplication Interrupted aortic arch Perimembranous ventricular septal defect Biliary atresia Cervical ribs Pancreatic hypoplasia Microcolon Cardiac arrest Congenital defect of the pericardium Depressed nasal ridge Small nail Webbed neck Renal cyst Total absence of the pericardium Colon perforation Hypoplastic tricuspid valve Neonatal insulin-dependent diabetes mellitus Double outlet left ventricle Pancreatic aplasia Hypoplasia of right ventricle Anterior pituitary agenesis Aplasia/Hypoplasia of the gallbladder Left-to-right shunt Hyperbilirubinemia Hepatitis Rickets Autism Wormian bones Triangular face Congenital cataract Corneal opacity Autistic behavior Protruding ear Cataract Aortic regurgitation Small scrotum Vitamin A deficiency Anasarca Vitamin D deficiency Bile duct proliferation Interstitial pulmonary abnormality Spontaneous abortion Adducted thumb Tetralogy of Fallot Patent ductus arteriosus Intestinal malrotation Gliosis Pulmonic stenosis Abnormal cardiac septum morphology Neonatal hypotonia Diabetes mellitus Ventricular septal defect Unilateral renal agenesis Small foramen magnum Calcaneovalgus deformity Premature skin wrinkling Spinal canal stenosis Delayed cranial suture closure Brisk reflexes Microtia, third degree


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