Intrauterine growth retardation, and Umbilical hernia

Diseases related with Intrauterine growth retardation and Umbilical hernia

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

Top matches:

Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.

PROGEROID SYNDROME, PETTY TYPE Is also known as petty syndrome|petty-laxova-wiedemann syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Strabismus
  • Epicanthus
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PROGEROID SYNDROME, PETTY TYPE

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6 Is also known as upd(6)pat

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • High palate
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6

A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

Other less relevant matches:

Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

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

High 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

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

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 6; MGORS6

AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME Is also known as autosomal recessive non-lethal multiple pterygium syndrome|escobar variant multiple pterygium syndrome|evmps|escobar syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME

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

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Microcephaly Cleft palate Micrognathia Global developmental delay Long philtrum Inguinal hernia Depressed nasal bridge Growth delay Ventricular septal defect Patent ductus arteriosus Severe short stature Small for gestational age Abnormal facial shape Low-set ears Recurrent respiratory infections Hyperlordosis Anteverted nares Scoliosis Atrial septal defect Abnormality of cardiovascular system morphology Strabismus Low-set, posteriorly rotated ears Epicanthus

Rare Symptoms - Less than 30% cases

Hepatitis Abnormality of the skeletal system Generalized hirsutism Short neck Abnormality of the nail Spina bifida occulta Diabetes mellitus Respiratory failure Hyperkeratosis Delayed myelination Finger syndactyly Camptodactyly of finger Respiratory tract infection Downslanted palpebral fissures Abnormal cardiac septum morphology Cutis laxa Cholestasis Hepatic fibrosis Wide mouth Congenital hypothyroidism Conductive hearing impairment Hypertelorism Cognitive impairment Skeletal muscle atrophy Delayed skeletal maturation Pancreatic hypoplasia Seizures Wide anterior fontanel Hypertension Recurrent infections Thick vermilion border Nevus Vertebral segmentation defect Precocious puberty Gingival overgrowth Feeding difficulties Congenital diaphragmatic hernia Oligohydramnios Pulmonary hypoplasia Hearing abnormality Macroglossia Postnatal growth retardation Retrognathia Broad forehead Hepatomegaly High palate Prominent occiput Neonatal respiratory distress Hyperglycemia Reduced subcutaneous adipose tissue Severe failure to thrive Neonatal insulin-dependent diabetes mellitus Meningocele Sensorineural hearing impairment Rib fusion Lipoatrophy Decreased muscle mass Nail dysplasia Abdominal distention Concave nasal ridge Large hands Type II diabetes mellitus High, narrow palate Clitoral hypertrophy Long foot Insulin resistance Epidermal acanthosis Severe intrauterine growth retardation Thick lower lip vermilion Thickened nuchal skin fold Hyperinsulinemia Hypermelanotic macule Cachexia Acanthosis nigricans Hypertrichosis Gynecomastia Glucose intolerance Mild intrauterine growth retardation Hirsutism Adrenal hypoplasia Hypotrichosis Cleft upper lip Ichthyosis Renal agenesis Cyanosis Coarctation of aorta Short ribs Congenital hip dislocation Renal hypoplasia/aplasia Erythroderma Congenital ichthyosiform erythroderma Short clavicles Epiphyseal stippling Parakeratosis Myelomeningocele Feeding difficulties in infancy Parachute mitral valve Hypoglycemia Macrotia Proptosis Dysphagia Elevated 8(9)-cholestenol Elevated 8-dehydrocholesterol Aplasia/Hypoplasia involving the central nervous system Hypoplastic scapulae Aplasia/hypoplasia of the extremities Single ventricle Thyroid hypoplasia Vertebral hypoplasia Subvalvular aortic stenosis Hypoplastic pelvis Small face Long eyelashes in irregular rows Ovarian cyst Arthrogryposis multiplex congenita Limitation of joint mobility Long face Oral cleft Abnormality of movement Facial asymmetry Abnormality of the foot Dolichocephaly Hypoplasia of penis Telecanthus Hypogonadism Pectus excavatum Gait disturbance Ptosis Nasogastric tube feeding Tracheobronchomalacia Webbed neck Low posterior hairline Bronchomalacia Abnormal aortic valve morphology Morphological abnormality of the gastrointestinal tract Abnormality of skeletal morphology Axillary pterygium Antecubital pterygium Popliteal pterygium Multiple pterygia Abnormality of the tongue Aplasia/Hypoplasia of the abdominal wall musculature Pointed chin Symphalangism affecting the phalanges of the hand Abnormal eyelid morphology Aplasia/Hypoplasia of the skin Abnormality of the sternum Aortic aneurysm Pterygium Scrotal hypoplasia Subglottic stenosis Entropion Fasting hypoglycemia Adipose tissue loss Midface retrusion Short nose Frontal bossing Motor delay Delayed speech and language development Asymmetry of the breasts Prominent nipples Elfin facies Gastroesophageal reflux Postprandial hyperglycemia Female pseudohermaphroditism Absence of subcutaneous fat Pancreatic islet-cell hyperplasia Abnormality of the abdominal wall Thick nasal alae Long penis Posteriorly rotated ears High forehead Patellar aplasia Sandal gap Hypoplastic labia majora Stenosis of the external auditory canal Tracheomalacia Cortical gyral simplification Emphysema Short middle phalanx of finger Laryngomalacia Microretrognathia Microtia Depressed nasal ridge Lumbar hyperlordosis Hip dysplasia Growth hormone deficiency Underdeveloped nasal alae Single transverse palmar crease Delayed puberty Erythema Hemivertebrae Hydronephrosis Pancreatic cysts Hypoplasia of the corpus callosum Short distal phalanx of finger Wide nasal bridge Brachydactyly Everted lower lip vermilion Splenic cyst Cystic renal dysplasia Cardiomyopathy Sagittal craniosynostosis Buphthalmos Esophageal varix Thoracolumbar scoliosis Hiatus hernia Enlarged kidney Hydrocephalus Hypertonia Portal hypertension Ventricular hypertrophy Cutis marmorata Failure to thrive in infancy Lissencephaly Short chin Left ventricular hypertrophy Small nail Dandy-Walker malformation Absent speech Bifid uvula Thin vermilion border Severe global developmental delay Hypertrophic cardiomyopathy Coarse facial features Obesity Congenital glaucoma Polycystic kidney dysplasia Periorbital fullness Abnormality of the face Labial hypertrophy Small anterior fontanelle Abdominal wall defect Abnormality of earlobe Hypoplastic fingernail Shallow orbits Cardiomegaly Brittle hair Dehydration Prominent nose Generalized myoclonic seizures Joint laxity Prematurely aged appearance Decreased skull ossification Abnormality of the placenta Redundant skin Choanal atresia Abnormality of the hair Bilateral sensorineural hearing impairment Sepsis Renal cyst Cirrhosis Abnormality of the liver Craniosynostosis Abnormality of the kidney Reduced number of teeth Thin upper lip vermilion Osteopenia Hypothyroidism Glaucoma Pneumonia Splenomegaly Abnormal dermatoglyphics Protruding tongue Skull asymmetry Alopecia Polydactyly Spina bifida Abnormal vertebral morphology Abnormal form of the vertebral bodies Abnormality of the ribs Confusion Kyphoscoliosis Hypospadias Scapular winging Mandibular prognathia Kyphosis Congestive heart failure Respiratory insufficiency Macrocephaly Total absence of the pericardium Shagreen patch Abnormality of the urinary system Congenital defect of the pericardium Abnormality of the intervertebral disk Intellectual disability, mild Flexion contracture Rib segmentation abnormalities Abnormality of the odontoid process Block vertebrae Cervical C2/C3 vertebral fusion Urogenital fistula Preaxial polydactyly Abnormality of female internal genitalia Anomalous pulmonary venous return Disproportionate short-trunk short stature Double outlet right ventricle Abnormality of the ureter Abnormality of immune system physiology Short thorax Colon perforation Hypoplastic tricuspid valve Thick eyebrow Gliosis Glycosuria Patent foramen ovale Hyperbilirubinemia Cardiac arrest Tetralogy of Fallot Intestinal malrotation Pulmonic stenosis Exocrine pancreatic insufficiency Sparse hair Elevated hepatic transaminase Neonatal hypotonia Abnormal heart morphology Cerebral atrophy Respiratory distress Transposition of the great arteries Pulmonary artery stenosis Double outlet left ventricle Intermittent diarrhea Pancreatic aplasia Hypoplasia of right ventricle Anterior pituitary agenesis Aplasia/Hypoplasia of the gallbladder Left-to-right shunt Microcolon Cervical ribs Truncus arteriosus Biliary atresia Perimembranous ventricular septal defect Interrupted aortic arch Ureteral duplication Prolonged partial thromboplastin time Mild microcephaly Single umbilical artery Absence of labia majora


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