Micrognathia, and Pulmonic stenosis

Diseases related with Micrognathia and Pulmonic stenosis

In the following list you will find some of the most common rare diseases related to Micrognathia and Pulmonic stenosis that can help you solving undiagnosed cases.

Top matches:

Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

Other less relevant matches:

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Micrognathia
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 3; CED3

Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.

MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY Is also known as multicentric osteolysis, autosomal dominant|idiopathic multicentric osteolysis with or without nephropathy|osteolysis, hereditary, of carpal bones with or without nephropathy

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Hypertension
  • Wide nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY

Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 3; CDLS3

Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

MATTHEW-WOOD SYNDROME Is also known as anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm|syndromic microphthalmia type 9|mcops9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|anophthalmia-pulmonary hypoplasia syndrom

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATTHEW-WOOD SYNDROME

Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.

MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME Is also known as mfdm syndrome|growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate|mfdm|mandibulofacial dysostosis, guion-almeida type|mandibulofacial dysostosis with microcephaly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and Pulmonic stenosis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Micrognathia and Pulmonic stenosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Abnormal facial shape Growth delay Hearing impairment Broad forehead Ventricular septal defect Abnormal heart morphology Abnormality of cardiovascular system morphology Downslanted palpebral fissures Telecanthus Congestive heart failure Anteverted nares Microcephaly Cryptorchidism Brachydactyly Long philtrum Thin upper lip vermilion Feeding difficulties Cleft palate Muscular hypotonia Dental crowding Delayed skeletal maturation Wide nasal bridge Short philtrum Everted lower lip vermilion Seizures Global developmental delay

Rare Symptoms - Less than 30% cases

Rocker bottom foot Sandal gap Downturned corners of mouth Hypoplasia of the maxilla Synophrys Prominent nasal bridge Osteopenia Abnormal cardiac septum morphology Supraventricular tachycardia Camptodactyly Feeding difficulties in infancy Brachycephaly Respiratory distress Clinodactyly of the 5th finger Renal hypoplasia Clinodactyly Stage 5 chronic kidney disease Hypertension Frontal bossing Abnormality of the skeletal system Renal insufficiency Short neck Patent ductus arteriosus Limb undergrowth Bulbous nose Respiratory insufficiency Aortic valve stenosis Short nose Midface retrusion Hepatomegaly Epicanthus Conductive hearing impairment Small hand Mitral valve prolapse Perimembranous ventricular septal defect Pierre-Robin sequence Prominent nose Long face Abnormality of the pinna Arrhythmia Ptosis Proximal placement of thumb Abnormal heart valve morphology Hypertrophic cardiomyopathy Cardiomyopathy Joint laxity Failure to thrive Upslanted palpebral fissure Pectus excavatum Posteriorly rotated ears Tachycardia Flexion contracture Hydronephrosis Obstructive sleep apnea Intrauterine growth retardation Acidosis Hypoplasia of the corpus callosum Microphthalmia Hernia Inguinal hernia Blepharophimosis Abnormality of the kidney Protruding ear Proportionate short stature Severe lactic acidosis Hypospadias Severe short stature Respiratory failure 3-Methylglutaconic aciduria Prominent sternum Severe failure to thrive Wide mouth Paroxysmal supraventricular tachycardia Anterior open bite Short 5th metacarpal Spondylolisthesis Ataxia Metabolic acidosis Increased serum lactate Aciduria Wolff-Parkinson-White syndrome Retrognathia 11 pairs of ribs Oligohydramnios Cardiomegaly Cardiac arrest Spontaneous abortion Severe muscular hypotonia Lactic acidosis Hyperammonemia Pectus carinatum Duodenal stenosis Pulmonary hypoplasia Progressive microcephaly Radioulnar synostosis Deep philtrum Atresia of the external auditory canal Abnormality of the outer ear Bicuspid aortic valve Preauricular skin tag Postnatal microcephaly Overfolded helix Choanal atresia Delayed myelination Bifid uvula Facial asymmetry Microtia Coloboma Absent speech Trigonocephaly Cupped ear Delayed speech and language development Abnormal renal morphology Morphological abnormality of the middle ear Underdeveloped tragus Prominent glabella Accessory oral frenulum Mandibulofacial dysostosis Moderate global developmental delay Large earlobe Preaxial hand polydactyly Skin tags Abnormality of the antihelix Stenosis of the external auditory canal Glossoptosis Esophageal atresia Slender finger Tracheoesophageal fistula Malar flattening Agenesis of pulmonary vessels Vesicoureteral reflux Horseshoe kidney Truncus arteriosus Hiatus hernia Hypoplasia of the uterus Anophthalmia Optic nerve hypoplasia Abnormality of the genitourinary system Abnormality of the genital system Abnormality of the uterus Abnormal lung morphology Intellectual disability, profound Coarctation of aorta Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Tetralogy of Fallot Intestinal malrotation Pulmonary artery atresia Bicornuate uterus Abnormal spleen morphology Pulmonary artery hypoplasia Hypoplastic left atrium Hypoplastic spleen Aplasia/Hypoplasia of the pancreas Mild intrauterine growth retardation Right aortic arch with mirror image branching Bilateral lung agenesis Renal malrotation Bilateral microphthalmos Pelvic kidney Single ventricle Overriding aorta Annular pancreas Abnormality of the diaphragm Sleep apnea Diaphragmatic eventration Transposition of the great arteries Abnormality of the dentition Infantile muscular hypotonia Postaxial polydactyly Bacterial endocarditis Quadricuspid aortic valve Reversed usual vertebral column curves Macrocephaly Syndactyly Rod-cone dystrophy Polydactyly Craniosynostosis Sparse hair Narrow chest Toe syndactyly Dry skin Cirrhosis Ectodermal dysplasia Asthenia Postaxial hand polydactyly Fine hair Cholestasis Rhizomelia Hepatic fibrosis Cutis laxa Widely spaced teeth Chronic kidney disease Nephronophthisis Scaphocephaly Hypoplasia of teeth Sagittal craniosynostosis Peripheral pulmonary artery stenosis Mastoiditis Tricuspid valve prolapse Bilateral postaxial polydactyly Right aortic arch Dolichocephaly Joint hyperflexibility Abnormality of the skin Tricuspid regurgitation Hypertelorism Cataract Areflexia High forehead Severe global developmental delay Round face Decreased fetal movement Epiphyseal stippling Secundum atrial septal defect Generalized neonatal hypotonia Endocarditis Pain Dyspnea Intellectual disability, moderate High, narrow palate Chest pain Convex nasal ridge Abnormality of the cardiovascular system Atrial fibrillation Mitral regurgitation Aortic regurgitation Disproportionate tall stature Striae distensae Thromboembolism Short nail Broad nail Spina bifida occulta Hirsutism Carpal osteolysis Wrist swelling Osteolysis involving tarsal bones Cognitive impairment Depressed nasal bridge Myopia Behavioral abnormality Gastroesophageal reflux Postnatal growth retardation Poor speech Smooth philtrum Thin vermilion border Thick eyebrow Short foot Metacarpal osteolysis Highly arched eyebrow Hypertrichosis Long eyelashes Low anterior hairline Finger clinodactyly Cutis marmorata Thick hair Limited elbow movement Low-set, posteriorly rotated ears Apnea Narrow forehead Palpitations Short toe Metatarsal osteolysis Doll-like facies 3-4 toe syndactyly Hypotelorism Gait disturbance Pes cavus Proptosis Polyhydramnios Arthralgia Arthritis Proteinuria Retinopathy Camptodactyly of finger Corneal opacity Nephropathy Triangular face Limitation of joint mobility Interphalangeal joint contracture of finger Ankle swelling Abnormality of epiphysis morphology EMG abnormality Osteolysis Cachexia Elevated alkaline phosphatase Rheumatoid arthritis Slender long bone Abnormality of the wrist Juvenile rheumatoid arthritis Ulnar deviation of the hand Ulnar deviation of the hand or of fingers of the hand Azotemia Hypertensive retinopathy Absent tragus


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