Intrauterine growth retardation, and Nevus

Diseases related with Intrauterine growth retardation and Nevus

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Nevus 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

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

Low 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:

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

Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Low match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

Autosomal recessive Robinow syndrome is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000). Genetic Heterogeneity of Robinow SyndromeSee also autosomal dominant Robinow syndrome-1 (DRS1 ), caused by mutation in the WNT5A gene (OMIM ) on chromosome 3p; DRS2 (OMIM ), caused by mutation in the DVL1 gene (OMIM ) on chromosome 1p36; and DRS3 (OMIM ), caused by mutation in the DVL3 gene (OMIM ) on chromosome 3q27.

ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS Is also known as costovertebral segmentation defect with mesomelia, formerly|covesdem syndrome, formerly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Nevus

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Global developmental delay Generalized hypotonia Umbilical hernia Abnormal facial shape Wide nasal bridge Macrocephaly Downslanted palpebral fissures Hearing impairment Micrognathia Abnormality of cardiovascular system morphology Cognitive impairment Seizures Cryptorchidism Failure to thrive Epicanthus Hypothyroidism Abnormality of the kidney Thin upper lip vermilion Muscular hypotonia Short neck Abnormal cardiac septum morphology Pulmonary hypoplasia Triangular face Edema Posteriorly rotated ears Cardiomyopathy Pointed chin Frontal bossing Hydronephrosis Neoplasm Multiple cafe-au-lait spots Intellectual disability, mild Overgrowth Broad forehead Long philtrum Nephroblastoma Strabismus Hernia Pectus excavatum High palate Nevus flammeus Ptosis

Rare Symptoms - Less than 30% cases

Pulmonic stenosis Anemia Melanocytic nevus Thick vermilion border Inguinal hernia Delayed puberty Hypogonadism Conductive hearing impairment Oral cleft Finger syndactyly Dolichocephaly Abnormal aortic valve morphology Webbed neck Protuberant abdomen Delayed skeletal maturation Arrhythmia Spina bifida occulta Aplasia/Hypoplasia of the skin Aplasia/Hypoplasia of the abdominal wall musculature External genital hypoplasia Rib fusion Abnormality of the tongue Proptosis Short nose Abdominal distention Abnormal heart morphology Ventricular septal defect Hypertension Stroke Joint hypermobility Postaxial polydactyly Vesicoureteral reflux Reduced bone mineral density Large for gestational age High pitched voice Macroglossia Hemihypertrophy Wide mouth Dental crowding Ascites Midface retrusion Hypodontia Astigmatism Cleft palate Abnormality of the nervous system Hepatosplenomegaly Severe short stature Congestive heart failure Ventriculomegaly Polydactyly Hepatomegaly Motor delay Multiple lentigines Neuroblastoma Abnormality of the ear Intellectual disability, moderate Pain Small hand Cyanosis Hypoplasia of the corpus callosum Clinodactyly Brachycephaly Wide anterior fontanel Telecanthus Postnatal growth retardation Subvalvular aortic stenosis Cutis laxa Redundant skin Low-set, posteriorly rotated ears Mandibular prognathia Hyperkeratosis Hemivertebrae Abnormality of the nail Smooth philtrum Adrenocortical carcinoma Myopia Kyphosis Abnormality of the dentition Thoracic hemivertebrae Diarrhea Vomiting Cerebellar atrophy Fever Prune belly Duplication of the distal phalanx of hand Absent uvula Cervical agenesis Hypoplastic sacrum Right ventricular outlet obstruction Flank pain Bifid distal phalanx of toe Renal insufficiency Right atrial isomerism Thrombocytopenia Immunodeficiency Corneal opacity Abnormality of skin pigmentation Teratoma Abdominal wall defect Stage 5 chronic kidney disease Malabsorption Platyspondyly Hepatoblastoma Hip dislocation Embryonal neoplasm Autoimmunity Headache Scarring Hyperlordosis Developmental regression Proteinuria Osteopenia Dementia Pneumonia Ganglioneuroma Recurrent infections Renal cortical cysts Aplasia/Hypoplasia involving the metacarpal bones Carcinoma Posterior helix pit Short palm Abnormal vertebral morphology Gingival overgrowth Long eyelashes Broad thumb Ambiguous genitalia Limb undergrowth Nail dysplasia Dental malocclusion Overgrowth of external genitalia Wide nose Flat face Adrenocortical cytomegaly Confusion Pancreatic hyperplasia Skeletal dysplasia Retrognathia Fibrous hamartoma Micropenis Abdominal pain Pancreatoblastoma Malar flattening Anteverted nares Brachydactyly Disproportionate short-limb short stature Radial deviation of finger Opsoclonus Normocytic anemia Abdominal mass Forearm undergrowth Bulbous nose Mesomelic short stature Triangular mouth Thymus hyperplasia Renal duplication Clitoral hypoplasia Nephroblastomatosis Delayed eruption of permanent teeth Short middle phalanx of the 5th finger Delayed cranial suture closure Vaginal atresia Bifid tongue Hypoplastic labia majora Missing ribs Thoracolumbar scoliosis Double outlet right ventricle Increased number of teeth Vitreomacular adhesion Long palpebral fissure Vertebral fusion Mesomelia Broad toe Rhabdomyosarcoma Diaphragmatic eventration Hypercalciuria Shallow acetabular fossae Steroid-resistant nephrotic syndrome Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Abnormality of the outer ear Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Growth abnormality Polycystic kidney dysplasia Prominent supraorbital ridges Dentinogenesis imperfecta Encephalomalacia Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Large hands Prominent occiput Thoracic kyphosis Transient ischemic attack Increased thyroid-stimulating hormone level Accelerated skeletal maturation Abnormality of the vasculature Omphalocele Coarse facial features Polyhydramnios Respiratory failure Hyperactivity Attention deficit hyperactivity disorder Renal cyst Postural instability Myoclonus Atrial septal defect Dandy-Walker malformation Cardiomegaly Respiratory distress Abnormal T cell morphology Recurrent urinary tract infections Large fontanelles Respiratory insufficiency Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Nephrolithiasis Premature arteriosclerosis Moyamoya phenomenon Nephrocalcinosis Abnormal immunoglobulin level Tibial bowing Broad palm Unilateral cryptorchidism Diastasis recti Abnormal form of the vertebral bodies Abnormal lung morphology Fine hair Intellectual disability, profound Lumbar hyperlordosis Nephrotic syndrome Microdontia Decreased testicular size Waddling gait Lymphoma Premature birth Migraine Ketosis Brain atrophy Gliosis Abnormal cerebellum morphology Nonimmune hydrops fetalis Neutropenia Gonadoblastoma Hypoplasia of the thymus Nephropathy Visceromegaly Pancreatic cysts Hypoglycemia Heterotopia Neonatal hypoglycemia Hamartoma Epiphyseal dysplasia Blue nevus Congenital hypothyroidism Prominent metopic ridge Steatorrhea Hypermelanotic macule Combined immunodeficiency Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Nephritis Glomerulonephritis Glomerulosclerosis Abnormality of epiphysis morphology Encephalitis Chronic kidney disease Coarse hair Azoospermia Hyperlipidemia Aniridia Atherosclerosis Opacification of the corneal stroma Foot polydactyly Enlarged kidney Bone marrow hypocellularity Lymphopenia Glomerulopathy High forehead Cutis marmorata telangiectatica congenita Facial asymmetry Vertebral segmentation defect Neonatal respiratory distress Aortic aneurysm Pterygium Scrotal hypoplasia Low posterior hairline Hypoplasia of penis Limitation of joint mobility Long face Abnormality of movement Abnormality of the foot Hearing abnormality Arthrogryposis multiplex congenita Camptodactyly of finger Gait disturbance Skeletal muscle atrophy Microcephaly Elevated 8(9)-cholestenol Elevated 8-dehydrocholesterol Parachute mitral valve Aplasia/Hypoplasia involving the central nervous system Mild intrauterine growth retardation Aplasia/hypoplasia of the extremities Abnormality of the sternum Abnormal eyelid morphology Thyroid hypoplasia Pectus carinatum Scapular winging Cafe-au-lait spot Left ventricular hypertrophy Subcutaneous nodule Abnormality of the face Abnormality of the genital system Myocardial infarction Mitral valve prolapse Tetralogy of Fallot Specific learning disability Joint hyperflexibility Hypertrophic cardiomyopathy Symphalangism affecting the phalanges of the hand Neonatal hypotonia Hypospadias Dilatation Sensorineural hearing impairment Absence of labia majora Morphological abnormality of the gastrointestinal tract Abnormality of skeletal morphology Axillary pterygium Antecubital pterygium Popliteal pterygium Multiple pterygia Single ventricle Vertebral hypoplasia Hyperextensible skin Decreased skull ossification Decreased body weight Broad-based gait Narrow forehead Broad nasal tip High, narrow palate Synophrys Abnormality of the pinna Pes planus Delayed speech and language development Long eyelashes in irregular rows Shagreen patch Prematurely aged appearance Sacral dimple Lipoatrophy Reduced subcutaneous adipose tissue Brittle hair Reduced number of teeth Abnormal dermatoglyphics Generalized hirsutism Abnormality of the hair Everted lower lip vermilion Short distal phalanx of finger Thick eyebrow Sparse hair Short chin Severe intrauterine growth retardation Hypoplastic pelvis Short ribs Hypoplastic scapulae Myelomeningocele Meningocele Adrenal hypoplasia Parakeratosis Epiphyseal stippling Short clavicles Congenital ichthyosiform erythroderma Erythroderma Renal hypoplasia/aplasia Congenital hip dislocation Coarctation of aorta Deep palmar crease Renal agenesis Ichthyosis Cleft upper lip Hypotrichosis Erythema Alopecia Flexion contracture Decreased head circumference Nevus flammeus of the forehead Malar rash Macrodontia Melanoma Myelodysplasia Vascular ring Telangiectasia Telangiectasia of the skin Abnormality of digit Cortical dysplasia Cutis marmorata Arnold-Chiari malformation Ischemic stroke Hemangioma Cutaneous syndactyly Shock Purpura Multicystic kidney dysplasia Postaxial hand polydactyly Arnold-Chiari type I malformation Abnormality of the skin Retinal detachment Polymicrogyria Toe syndactyly Leukemia Joint laxity Deeply set eye Patent ductus arteriosus Microphthalmia Syndactyly Hydrocephalus Syringomyelia Severe postnatal growth retardation Constrictive pericarditis Skin erosion Displacement of the external urethral meatus Progressive macrocephaly Leukocoria Hemimegalencephaly Facial hemangioma Capillary malformation Short lower limbs Subcutaneous hemorrhage Perisylvian polymicrogyria Asymmetric growth Right aortic arch Arterial stenosis Severe failure to thrive Cavum septum pellucidum Dilation of lateral ventricles Atrial flutter Abnormality of the upper limb Arteriovenous malformation Abnormality of the lower limb Large earlobe Varicose veins Meningioma Megalencephaly Capillary hemangioma Pericardial constriction Hypoplastic frontal sinuses Abnormality of the voice Abnormal mitral valve morphology Depressivity Dysarthria Feeding difficulties Numerous nevi Hypoplasia of the ovary Abnormal pulmonary valve morphology Abnormal endocardium morphology Excessive wrinkled skin Abnormality of the pulmonary artery Abnormal localization of kidney Shield chest Redundant neck skin Retinopathy Wolff-Parkinson-White syndrome Right ventricular hypertrophy Premature skin wrinkling Sprengel anomaly Severe sensorineural hearing impairment Curly hair Freckling Atrioventricular canal defect Decreased fertility Bundle branch block Bilateral cryptorchidism Diabetes mellitus Small for gestational age J-shaped sella turcica Pulmonary fibrosis Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Myocardial fibrosis Microglossia Scaphocephaly Insulin-resistant diabetes mellitus Pericarditis Slender long bone Premature ovarian insufficiency Infertility Cachexia Reduced tendon reflexes Acanthosis nigricans Increased body weight Insulin resistance Epidermal acanthosis Type II diabetes mellitus Pigmentary retinopathy Growth hormone deficiency Decreased antibody level in blood Cirrhosis Congenital mesoblastic nephroma


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