Failure to thrive, and Mitral valve prolapse

Diseases related with Failure to thrive and Mitral valve prolapse

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

Top matches:

CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease|classic mmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC MULTIMINICORE MYOPATHY

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

Other less relevant matches:

Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome (MFS ), and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. There are 2 main phenotypes of the classic disorder: a milder pyridoxine (vitamin B6)-responsive form, and a more severe pyridoxine-nonresponsive form. Pyridoxine is a cofactor for the CBS enzyme, and can aid in the conversion of homocysteine to cysteine (summary by Reish et al., 1995 and Testai and Gorelick, 2010).Some patients have been reported to have a milder form of homocystinuria, which is characterized by increased plasma homocysteine and increased risk for thrombotic events in young adulthood, but without the other skeletal, ocular, or nervous system manifestations observed in classic homocystinuria (Kelly et al., 2003).

HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY Is also known as cystathionine beta-synthase deficiency|cbs deficiency|homocystinuria with or without response to pyridoxine

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • High palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.

CARDIOSPONDYLOCARPOFACIAL SYNDROME Is also known as forney-robinson-pascoe syndrome|mitral regurgitation-deafness-skeletal anomalies syndrome|forney syndrome|mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOSPONDYLOCARPOFACIAL SYNDROME

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

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

Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Mitral valve prolapse

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Mitral valve prolapse. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation Pectus excavatum Abnormal facial shape Seizures Pes planus Atrial septal defect Patent ductus arteriosus Myopia Hypertelorism Respiratory distress Downslanted palpebral fissures Hydrocephalus Cleft palate Arachnodactyly Retrognathia Osteoporosis High, narrow palate Abnormality of the skeletal system Generalized hypotonia Abnormality of retinal pigmentation Mitral regurgitation Delayed puberty High palate Abnormal heart morphology Hypertension Global developmental delay Abnormal cardiac septum morphology Scoliosis Wide nasal bridge Hearing impairment Abnormality of cardiovascular system morphology Microcephaly Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases

Arrhythmia Short thumb Severe short stature Secundum atrial septal defect Neutropenia Upslanted palpebral fissure Joint laxity Abnormality of the eye Anteriorly placed anus Short nose Aplasia/Hypoplasia of the skin Muscular hypotonia Peripheral arterial stenosis Short palm Fatigue Long philtrum Triphalangeal thumb Full cheeks Glaucoma Clinodactyly of the 5th finger Agenesis of corpus callosum Limitation of joint mobility Hypopigmentation of the skin Hepatic steatosis Strabismus Feeding difficulties Hypogonadism Abnormality of the testis Anteverted nares Abnormality of the dentition Frontal bossing Rocker bottom foot Tricuspid regurgitation Patent foramen ovale Microphthalmia Anemia Ectopia lentis Congestive heart failure Aortic valve stenosis Hip dysplasia Finger clinodactyly Syndactyly Abnormal eyelid morphology Dilatation Abnormal eyelash morphology Gastroesophageal reflux Prominent nasal bridge Bruising susceptibility Tall stature Horseshoe kidney Narrow palm Progeroid facial appearance Abnormality of skin pigmentation Iris coloboma Quadricuspid aortic valve Limited elbow extension Hyperpigmentation of the skin Bundle branch block Right bundle branch block Hypoplastic left heart Cafe-au-lait spot Petechiae Short humerus Absent thumb Atrioventricular canal defect Amblyopia Oligodactyly Status epilepticus Absent radius Congenital diaphragmatic hernia Ambiguous genitalia Abnormality of the nail Menorrhagia Aplasia of the pectoralis major muscle Aortic regurgitation Ventricular fibrillation Anophthalmia Clitoral hypertrophy Dermal atrophy Mutism Short digit Aplasia of the ulna Hypopigmented skin patches Hypoplasia of the ulna Eosinophilia Sacral dimple Hypoplasia of the radius Intellectual disability, progressive Atrioventricular block Abnormality of dental enamel Bowing of the legs Pigmentary retinopathy Thoracic scoliosis Cataract Hypospadias Micropenis Respiratory failure Preauricular pit Ecchymosis Complete atrioventricular canal defect Anomalous pulmonary venous return Visual loss Phocomelia Abnormality of the carpal bones Hypertrophic cardiomyopathy Hernia Total anomalous pulmonary venous return Abnormality of metabolism/homeostasis Hematemesis Small thenar eminence Midface retrusion Blindness Cardiomyopathy Dyspnea Allergy Tibial torsion Anal atresia Lactose intolerance Specific learning disability Retinal dystrophy Wide nose Short clavicles Patellar subluxation Mesoaxial polydactyly Heart block Nail dystrophy Down-sloping shoulders Dilated cardiomyopathy Corneal opacity Partial duplication of thumb phalanx Skin rash Coloboma Blepharophimosis Erythema Truncus arteriosus Tachycardia Colpocephaly Albinism Decreased fertility Fragile nails Neoplasm of the lung Insulin-resistant diabetes mellitus Prematurely aged appearance Secondary amenorrhea Ovarian neoplasm Sparse body hair Telangiectasia of the skin Glycosuria Lipoatrophy Aplasia/Hypoplasia of the eyebrow Osteolytic defects of the phalanges of the hand Coronary artery atherosclerosis Premature graying of hair Calf muscle hypertrophy Hyperglycemia Abnormality of the thorax Premature ovarian insufficiency Abnormality of the voice Hyperinsulinemia Laryngomalacia Reduced bone mineral density Neoplasm of the skin Meningioma Renal neoplasm Narrow face Fasting hyperinsulinemia Sclerosis of hand bone Patchy hypo- and hyperpigmentation Progressive clavicular acroosteolysis Neoplasm of the oral cavity Premature arteriosclerosis Intervertebral disc degeneration Neoplasm of the thyroid gland Subcutaneous calcification Neoplasm of the small intestine Abnormality of the Achilles tendon Abnormal hair whorl Aortic valve calcification Osteosarcoma Neoplasm of the breast Generalized lipodystrophy Abnormal hair quantity Abnormality of the pulmonary artery White forelock Exercise-induced myalgia Chondrocalcinosis Prominent superficial veins Lack of skin elasticity Pili torti Abnormality of the cerebral vasculature Increased bone mineral density Abnormality of the hair Aphasia Echolalia Overriding aorta Abnormality of the anus Tricuspid valve prolapse Abnormal nasolacrimal system morphology Epispadias Abnormality of earlobe Chordee Periventricular leukomalacia Abnormal vertebral morphology Supraventricular tachycardia Retinal dysplasia Abnormality of the penis Ocular albinism Sclerocornea Male pseudohermaphroditism Posterior embryotoxon Anencephaly Aplasia cutis congenita Absent septum pellucidum Abnormality of the ear Congenital glaucoma Hypoplasia of the uterus Dysphasia Mandibular aplasia Ovotestis Skin ulcer Alopecia Decreased body weight Thin skin Hypertriglyceridemia Type II diabetes mellitus Convex nasal ridge Thin vermilion border Retinal degeneration Congenital cataract Hypotrichosis Hyperkeratosis Diabetes mellitus Skeletal muscle atrophy Functional motor deficit Anal fistula Asymmetric, linear skin defects Cleft earlobe Abnormality of the rectum Vitritis Histiocytoid cardiomyopathy Orbital cyst Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Arteria lusoria Bradycardia Genu valgum Atrial fibrillation Tracheomalacia Behavioral abnormality Edema Persistence of hemoglobin F Fetal distress Reticulocytopenia Cleft soft palate Increased mean corpuscular volume Esophagitis Acute leukemia Macrocytic anemia Inguinal hernia Abnormality of the hand Abnormality of the urinary system Melanoma Abnormality of the genital system Depressed nasal ridge Thick lower lip vermilion Ventricular hypertrophy Tetralogy of Fallot Migraine Depressivity Kyphoscoliosis Cleft upper lip Cutis marmorata Biconcave vertebral bodies Homocystinuria Cerebral edema Precocious atherosclerosis Generalized osteoporosis Transient ischemic attack Pulmonary embolism Thromboembolism Disproportionate tall stature Obsessive-compulsive behavior Aggressive behavior Brittle hair Schizophrenia Atherosclerosis Pancreatitis Aspiration Dental crowding Myocardial infarction Retinal detachment Pectus carinatum Stroke Bifid uvula Autistic behavior Hypermethioninemia Axial muscle weakness Macrocephaly Absent muscle fiber merosin Intermittent episodes of respiratory insufficiency due to muscle weakness Weakness of facial musculature Limited neck flexion Increased muscle lipid content Nocturnal hypoventilation Right ventricular failure Muscle fiber atrophy Restrictive deficit on pulmonary function testing Proptosis Right ventricular hypertrophy Spinal rigidity Generalized amyotrophy High pitched voice Multiple joint contractures Congenital muscular dystrophy Poor head control Delayed gross motor development Microretrognathia Mandibular prognathia Prominent forehead Craniosynostosis Pallor Severe intrauterine growth retardation Cleft lip Autism Neoplasm Prominent scalp veins Dural ectasia Pes valgus Hyperextensibility of the finger joints Entropion Narrow nose Scaphocephaly Arthrogryposis multiplex congenita Aortic root aneurysm Reduced subcutaneous adipose tissue Aortic aneurysm Lipodystrophy Relative macrocephaly Cutis laxa Increased body weight High myopia Oligohydramnios Premature birth Personality disorder Delayed speech and language development Epistaxis Thick eyebrow Sandal gap Low anterior hairline Preauricular skin tag Gingival overgrowth Long eyelashes Open mouth Decreased fetal movement Hypoplasia of the maxilla Tapered finger Joint hyperflexibility Failure to thrive in infancy Neurological speech impairment Finger syndactyly Short philtrum Feeding difficulties in infancy Obesity Kyphosis Optic atrophy Cryptorchidism Nystagmus Abnormality of nervous system morphology Reduced number of teeth Cubitus valgus Shallow orbits Diarrhea Coarctation of aorta Abnormality of the cardiovascular system Gastrointestinal hemorrhage Asthma Nausea Hepatosplenomegaly Polydactyly Clinodactyly Thrombocytopenia Vomiting Abnormality of the hip bone Depressed nasal bridge Slender toe Cat cry Aplasia/Hypoplasia of the tongue Chorioretinal dystrophy Macrodontia Thick hair Aplasia/Hypoplasia of the earlobes Hypoplasia of the zygomatic bone Weak cry Ventricular extrasystoles External genital hypoplasia Brachydactyly Congenital sensorineural hearing impairment Delayed ossification of carpal bones Fused cervical vertebrae Rib fusion Misalignment of teeth Severe failure to thrive Carpal synostosis Synostosis of carpal bones Freckling Tarsal synostosis Cone-shaped epiphysis Synostosis of carpals/tarsals Abnormal form of the vertebral bodies Recurrent otitis media Decreased testicular size Vesicoureteral reflux Short foot Postnatal growth retardation Telecanthus Conductive hearing impairment Posteriorly rotated ears Delayed skeletal maturation Pseudoepiphyses Failure of eruption of permanent teeth Thoracic hypoplasia Facial asymmetry Mild short stature Redundant skin Abnormality of vision Plagiocephaly Short palpebral fissure Interphalangeal joint contracture of finger Triangular face Small hand Smooth philtrum Dolichocephaly Low-set ears Camptodactyly of finger Wide mouth Abnormality of the pinna Low-set, posteriorly rotated ears Neonatal hypotonia Thin upper lip vermilion Malar flattening Intellectual disability, mild Ventriculomegaly Epicanthus Abnormality of circulating leptin level


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