Intrauterine growth retardation, and Mitral valve prolapse

Diseases related with Intrauterine growth retardation and Mitral valve prolapse

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

Top matches:

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

Other less relevant matches:

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25)|monosomy 6q25

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 6Q25 MICRODELETION SYNDROME

Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

CORNELIA DE LANGE SYNDROME 2; CDLS2 Is also known as cornelia de lange syndrome, x-linked|cdls, x-linked

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 2; CDLS2

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

High match COHEN SYNDROME

Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about COHEN SYNDROME

Medium match COHEN SYNDROME; COH1

Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Medium match WILLIAMS SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Mitral valve prolapse

Symptoms // Phenotype % cases
Growth delay Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Sensorineural hearing impairment Microcephaly Joint hyperflexibility Generalized hypotonia Ventricular septal defect Failure to thrive Abnormal facial shape Downslanted palpebral fissures Pectus excavatum Myopia Dilatation Ptosis Hypertelorism Cleft palate Neonatal hypotonia Neurological speech impairment Mitral regurgitation Cryptorchidism Cognitive impairment Gastroesophageal reflux Prominent nasal bridge Smooth philtrum Pes planus Delayed puberty Clinodactyly of the 5th finger Hearing impairment High palate Strabismus Thick vermilion border Respiratory distress Behavioral abnormality Hypertrophic cardiomyopathy Thick eyebrow Depressed nasal bridge Narrow forehead Long eyelashes Low anterior hairline Intellectual disability, mild Myocardial infarction Paralysis Wide mouth Malar flattening Wide nasal bridge Abnormality of cardiovascular system morphology Hypertension Thin upper lip vermilion Joint laxity Low-set, posteriorly rotated ears Small hand Abnormal endocardium morphology Full cheeks Redundant skin Visual impairment Hypothyroidism Stroke Small for gestational age Macrocephaly Abnormality of skin pigmentation Kyphosis Spasticity Patent ductus arteriosus Obesity Atrial septal defect Short nose Open mouth Gingival overgrowth Genu valgum Retrognathia Neutropenia Narrow palm Cutis laxa Feeding difficulties in infancy Tetralogy of Fallot Ventricular hypertrophy High, narrow palate Bruising susceptibility Arachnodactyly Failure to thrive in infancy

Rare Symptoms - Less than 30% cases

Blindness Abnormality of the cardiovascular system Congestive heart failure Sudden cardiac death Renal insufficiency Hypoplasia of the zygomatic bone Visual loss Reduced visual acuity Scarring Weak cry Cardiomyopathy Postural instability Abnormality of the hip bone Cubitus valgus Edema Microphthalmia Celiac disease Cataract Long philtrum Abnormality of dental morphology Abnormal heart morphology Kyphoscoliosis Macrotia Diabetes mellitus Cerebellar hypoplasia Hernia Slender toe Aplasia/Hypoplasia of the earlobes Cat cry Chorioretinal dystrophy Triangular face Macrodontia Thick hair Tricuspid regurgitation Subcutaneous nodule External genital hypoplasia Abnormality of nervous system morphology Reduced number of teeth Abnormal mitral valve morphology Nephrocalcinosis Mandibular prognathia Hypoplasia of the maxilla Tapered finger Iris coloboma Precocious puberty Finger syndactyly Radioulnar synostosis Delayed skeletal maturation Short philtrum Abnormality of the kidney Widely spaced teeth Pulmonic stenosis Spina bifida occulta Abnormality of the voice Right ventricular hypertrophy Vocal cord paralysis Nystagmus Optic atrophy Abnormality of the dentition Decreased fetal movement Esotropia Ischemic stroke Renovascular hypertension Hyperextensible skin Intracranial hemorrhage Cutis marmorata Abnormality of the cerebral vasculature Redundant neck skin Arterial stenosis Excessive wrinkled skin Sandal gap Preauricular skin tag Highly arched eyebrow Feeding difficulties Short neck Absent speech Recurrent respiratory infections Brachycephaly Abnormality of retinal pigmentation Respiratory tract infection Synophrys Protruding ear Intellectual disability, moderate Retinopathy Anteverted nares Melanoma Schizophrenia Clumsiness Sleep disturbance Retinal degeneration Skin rash Developmental regression Ventriculomegaly Thrombocytopenia Gait disturbance Tremor Dysarthria Hyperreflexia Ataxia Abnormality of the genital system Aplasia/Hypoplasia of the abdominal wall musculature Thick lower lip vermilion Autistic behavior Cleft lip Autism Osteoporosis Arrhythmia Anemia Severe intrauterine growth retardation Increased body weight Tall stature High myopia Oligohydramnios Craniosynostosis Hydrocephalus Dysphonia Otitis media Low-set ears Abnormality of the skeletal system Epicanthus Hypercalcemia Recurrent aphthous stomatitis Synostosis of joints Cutis gyrata of scalp Abnormality of the bladder Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Granulocytopenia Bull's eye maculopathy Iris atrophy Tapetoretinal degeneration Bone spicule pigmentation of the retina Abnormality of the larynx Narrow philtrum Macular edema Furrowed tongue Deep venous thrombosis Renal artery stenosis Misalignment of teeth Facial hypotonia Coronary artery stenosis Microglossia Gingivitis Posterior subcapsular cataract Hiatus hernia Peripheral visual field loss Hemeralopia High-pitched cry Chorioretinal dysplasia Vascular tortuosity Abdominal pain Constipation Arnold-Chiari type I malformation Elevated serum creatine phosphokinase Inguinal hernia Depressivity Midface retrusion Hypertonia Myopathy Delayed speech and language development Flexion contracture Posterior embryotoxon Retinal arteriolar tortuosity Pain Abnormality of the ankles Hypoplastic philtrum Tubulointerstitial abnormality Overriding aorta Aortic arch aneurysm Childhood-onset truncal obesity Obsessive-compulsive trait Nocturia Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum Thoracic scoliosis Polyuria Hyperacusis Prematurely aged appearance Narrow nasal bridge Overfriendliness Early onset of sexual maturation Dyssynergia Truncal obesity Disproportionate tall stature High hypermetropia Facial cleft Cerebral hemorrhage Stellate iris Functional abnormality of male internal genitalia Constriction of peripheral visual field Thyroid hemiagenesis Descending aorta hypoplasia Rheumatoid arthritis Vocal cord dysfunction Short metatarsal Laryngomalacia Recurrent skin infections Venous thrombosis Leukopenia Intellectual disability, progressive Progressive microcephaly Exotropia Lumbar hyperlordosis Nystagmus-induced head nodding Bilateral vocal cord paralysis Soft skin Megalocornea Pelvic kidney Loss of consciousness Food intolerance Open bite Infantile hypercalcemia Abnormality of the gastric mucosa Abnormal social behavior Abnormality of lipid metabolism Flat cornea Hallux valgus Premature graying of hair Insomnia Elfin facies Supravalvular aortic stenosis Restlessness Impaired visuospatial constructive cognition Calcification of the aorta Unilateral renal hypoplasia Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormal carotid artery morphology Abnormality of the diencephalon Subcapsular cataract Medial flaring of the eyebrow Vertebral segmentation defect Nevus flammeus Glaucoma Cholelithiasis Hemivertebrae Subvalvular aortic stenosis Sacral dimple Bicuspid aortic valve Abnormal renal morphology Chronic otitis media Lacrimation abnormality Progressive hearing impairment Abnormal dermatoglyphics Abnormality of the fingernails Bladder diverticulum Abnormality of dental enamel Hypogonadotrophic hypogonadism Decreased plasma carnitine Pointed chin Increased bone mineral density Narrow face Hoarse voice Aortic valve stenosis Amblyopia Nephrolithiasis Recurrent urinary tract infections Involuntary movements Obsessive-compulsive behavior Abnormal form of the vertebral bodies Recurrent otitis media Peripheral pulmonary artery stenosis Infantile muscular hypotonia Small nail Villous atrophy Hypercalciuria Polycystic ovaries Patellar dislocation Multiple renal cysts Abnormality of the vasculature Down-sloping shoulders Blue irides Chronic constipation Tubulointerstitial nephritis Large earlobe Abnormality of the neck Enuresis Portal hypertension Periorbital fullness Pigmentary retinopathy Nephritis Pulmonary artery stenosis Incoordination Abnormality of pelvic girdle bone morphology Dyslexia Cerebral ischemia Abnormality of refraction Gait imbalance Adducted thumb Reduced bone mineral density Arnold-Chiari malformation Hemiparesis Cystic renal dysplasia Glucose intolerance Retinal vascular tortuosity Abnormal cardiac septum morphology Blepharophimosis Unilateral renal agenesis Phonophobia Joint stiffness Parathyroid hyperplasia Urethral stenosis Irritability Abnormal glucose tolerance Increased nuchal translucency Hyperlordosis Hypoplastic toenails Thyroid hypoplasia Broad forehead Anxiety Umbilical hernia Tracheoesophageal fistula Coarse facial features Aplasia/Hypoplasia of the iris Arthralgia Osteopenia Renal duplication High forehead Colonic diverticula Micropenis Cerebral cortical atrophy Attention deficit hyperactivity disorder Corneal opacity Renal hypoplasia Microdontia Peptic ulcer Type II diabetes mellitus Periorbital edema Hypsarrhythmia Rectal prolapse Cardiomegaly Coarctation of aorta Abnormality of extrapyramidal motor function Poor coordination Hypoplasia of penis Hypotelorism Dehydration Dysgraphia Nausea and vomiting Renal agenesis Dental malocclusion Vesicoureteral reflux Chest pain Macroglossia Broad nasal tip Hypodontia Everted lower lip vermilion Oral cleft Dysmetria Malabsorption Carious teeth Proteinuria Hyperkeratosis Progressive visual loss Visceromegaly Fatal liver failure in infancy Low cholesterol esterification rates Abnormal cholesterol homeostasis Foam cells in visceral organs and CNS Sea-blue histiocytosis Congenital thrombocytopenia Fetal ascites Rapid neurologic deterioration Bone-marrow foam cells Supranuclear ophthalmoplegia Cataplexy Vertical supranuclear gaze palsy Foam cells Agenesis of corpus callosum Spastic dysarthria Supranuclear gaze palsy Head tremor Trismus Loss of speech Neurofibrillary tangles Prolonged neonatal jaundice Athetosis Progressive neurologic deterioration Intention tremor Psychosis Intellectual disability, profound Frontal bossing Upslanted palpebral fissure Neuronal loss in central nervous system Shallow orbits Acne Abnormality of the thorax Atherosclerosis Macular degeneration Blue sclerae Cerebral calcification Abnormality of the skin Gastrointestinal hemorrhage Pruritus Papule Secundum atrial septal defect Ventricular extrasystoles Anteriorly placed anus Abnormality of the eye Thoracic hypoplasia Mild short stature Rocker bottom foot Patent foramen ovale Abnormality of vision Plagiocephaly Short palpebral fissure Interphalangeal joint contracture of finger Facial asymmetry Dolichocephaly Camptodactyly of finger Abnormality of the pinna Spastic tetraplegia Chorea Coronary artery atherosclerosis Entropion Short thumb Depressed nasal ridge Migraine Bifid uvula Cleft upper lip Pallor Fatigue Neoplasm Prominent scalp veins Dural ectasia Pes valgus Hyperextensibility of the finger joints Progeroid facial appearance Abnormality of the hand Narrow nose Scaphocephaly Aortic root aneurysm Reduced subcutaneous adipose tissue Aortic aneurysm Ectopia lentis Lipodystrophy Relative macrocephaly Premature birth Arthrogryposis multiplex congenita Proptosis Prominent forehead Abnormality of the urinary system Triphalangeal thumb Tetraplegia Myoclonus Ascites Neurodegeneration Cirrhosis Abnormality of movement Ophthalmoplegia Abnormality of the cerebral white matter Generalized tonic-clonic seizures Abnormal pyramidal sign Mental deterioration Abnormality of the nervous system Hepatosplenomegaly Jaundice Dementia Macrocytic anemia Pneumonia Splenomegaly Dystonia Dysphagia Hepatomegaly Persistence of hemoglobin F Fetal distress Reticulocytopenia Cleft soft palate Increased mean corpuscular volume Esophagitis Acute leukemia Tracheomalacia Hemiplegia/hemiparesis Hypermelanotic macule Convex nasal ridge Myelodysplasia Sprengel anomaly Severe sensorineural hearing impairment Curly hair Neuroblastoma Multiple cafe-au-lait spots Freckling Atrioventricular canal defect Decreased fertility Abnormality of the ear Bundle branch block Bilateral cryptorchidism Melanocytic nevus Scapular winging Wolff-Parkinson-White syndrome Cafe-au-lait spot Left ventricular hypertrophy Abnormality of the face Specific learning disability Webbed neck Nevus Pectus carinatum Posteriorly rotated ears Hypospadias Skull asymmetry Curly eyelashes Semilobar holoprosencephaly Premature skin wrinkling Shield chest Hemihypertrophy Postnatal growth retardation Aciduria Growth hormone deficiency Prominent nose Short metacarpal Microcornea Single transverse palmar crease Retinal detachment Retinal dystrophy Joint hypermobility Astigmatism Severe global developmental delay Nyctalopia Arthritis Abnormal aortic valve morphology Rod-cone dystrophy Recurrent infections Motor delay Aplasia/Hypoplasia of the tongue Abnormal eyelid morphology Abnormal eyelash morphology Numerous nevi Hypoplasia of the ovary Abnormal pulmonary valve morphology Multiple lentigines Abnormality of the pulmonary artery Abnormal localization of kidney Limited elbow movement Enlarged cisterna magna Abnormal retinal morphology Abnormal thrombocyte morphology Accelerated atherosclerosis Civatte bodies Abnormality of connective tissue Metamorphopsia Angioid streaks of the fundus Intermittent claudication Retinal hemorrhage Choroidal neovascularization Ectopic calcification Pulmonary insufficiency Arteriosclerosis Pulmonary edema Restrictive cardiomyopathy Subcutaneous calcification Lack of skin elasticity Angina pectoris Peripheral arterial stenosis Mitral stenosis Drusen Thickened nuchal skin fold Abnormality of the mouth Severe vision loss Striae distensae Telangiectasia of the skin Multiple lipomas Chorioretinal atrophy Vascular calcification Arterial calcification Prominent metopic ridge Deeply set eye Proximal placement of thumb Aortic regurgitation Holoprosencephaly Decreased body weight Wide intermamillary distance Febrile seizures Short foot Downturned corners of mouth Hirsutism Poor speech Coloboma Sparse hair EEG abnormality Hyperkeratotic papule Clinodactyly Brachydactyly Medial calcification of small arteries Abnormal atrioventricular valve morphology Medial calcification of medium-sized arteries Premature occlusive vascular stenosis Erythematous papule Subretinal fluid Peau d'orange Peripapillary chorioretinal atrophy Medial calcification of large arteries Generalized arterial calcification Localized skin lesion Atrophy/Degeneration involving the corticospinal tracts


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