Abnormal facial shape, and Aortic valve stenosis

Diseases related with Abnormal facial shape and Aortic valve stenosis

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Aortic valve stenosis that can help you solving undiagnosed cases.


Top matches:

Medium match SUPRAVALVULAR AORTIC STENOSIS


SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.

SUPRAVALVULAR AORTIC STENOSIS Is also known as supravalvar aortic stenosis, eisenberg type|svas

Related symptoms:

  • Intellectual disability
  • Abnormal facial shape
  • Edema
  • Arrhythmia
  • Pulmonic stenosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about SUPRAVALVULAR AORTIC STENOSIS

Medium match AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA


Autosomal recessive infantile hypercalcemia is a rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.

AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA Is also known as familial infantile hypercalcemia with suppressed intact parathyroid hormone|hypercalcemia, idiopathic, of infancy

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA

Medium match SINGLETON-MERTEN SYNDROME 2; SGMRT2


Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

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Other less relevant matches:

Medium match POLYVALVULAR HEART DISEASE SYNDROME


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

Medium match MUCOLIPIDOSIS TYPE III GAMMA


Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.

MUCOLIPIDOSIS TYPE III GAMMA Is also known as ml iii gamma|mucolipidosis type 3 gamma|mucolipidosis iii, iranian variant form|ml 3 gamma|mucolipidosis iiic|ml iiic|mucolipidosis iii, complementation group c|mucolipidosis iii, variant form

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain
  • Flexion contracture


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III GAMMA

Medium match NPHP3-RELATED MECKEL-LIKE SYNDROME


NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.

NPHP3-RELATED MECKEL-LIKE SYNDROME Is also known as renal-hepatic-pancreatic dysplasia with dandy-walker cyst|meckel-like syndrome type 1|renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome|meckel syndrome type 7|goldston syndrome

Related symptoms:

  • Respiratory insufficiency
  • Atrial septal defect
  • Hypertonia
  • Dilatation
  • Patent ductus arteriosus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NPHP3-RELATED MECKEL-LIKE SYNDROME

Medium match PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM; PMRED


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM; PMRED

Medium match SCHEIE SYNDROME


Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

SCHEIE SYNDROME Is also known as mps v, formerly|mucopolysaccharidosis type 1s|mps5, formerly|mps1-s|mps1s|mucopolysaccharidosis type v, formerly|mpsis|mucopolysaccharidosis type is

Related symptoms:

  • Sensorineural hearing impairment
  • Visual impairment
  • Depressed nasal bridge
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHEIE SYNDROME

Medium match RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1


RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 Is also known as rhpd

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B


Mucopolysaccharidosis type IVB is an autosomal recessive disorder characterized by skeletal dysplasia and corneal clouding. There is no central nervous system involvement and intelligence is normal. There is increased urinary keratan sulfate excretion (Suzuki et al., 2001).See mucopolysaccharidosis type IVA (OMIM ), also known as Morquio syndrome A, a genetically distinct disorder with overlapping clinical features caused by mutation in the GALNS gene (OMIM ) on chromosome 16q24.There may also be a nonkeratansulfate-excreting form of Morquio syndrome, so-called type C (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B Is also known as morquio syndrome b|mps ivb

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Pain
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Aortic valve stenosis

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases
Dysostosis multiplex Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Aortic valve stenosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Situs inversus totalis Genu valgum Generalized hypotonia Coarse facial features Wide mouth Hepatomegaly Pulmonic stenosis Short neck

Rare Symptoms - Less than 30% cases


Hyperlordosis Joint stiffness Inguinal hernia Opacification of the corneal stroma Aortic regurgitation Spondyloepiphyseal dysplasia Kyphosis Respiratory insufficiency Atrial septal defect Pain Patent ductus arteriosus Intestinal malrotation Polydactyly Bile duct proliferation Corneal opacity Skeletal dysplasia Mandibular prognathia Pancreatic dysplasia Multiple glomerular cysts Hepatic cysts Pancreatic cysts Biliary cirrhosis Stage 5 chronic kidney disease Hepatic fibrosis Renal dysplasia Cholestasis Oligohydramnios Dandy-Walker malformation Global developmental delay Renal cyst Pulmonary hypoplasia Scoliosis Potter facies Edema Glaucoma Arrhythmia Delayed skeletal maturation Constrictive median neuropathy Stridor Rhinitis Obstructive sleep apnea Spinal cord compression Mitral stenosis Broad face Spondylolisthesis Abnormality of peripheral nerve conduction Cerebral palsy Mucopolysacchariduria Abnormal nerve conduction velocity Urinary glycosaminoglycan excretion Cervical cord compression Tricuspid atresia Growth delay Hypertelorism Intrauterine growth retardation Renal insufficiency Abnormal heart morphology Sleep apnea Limitation of joint mobility Spastic paraparesis Hydrops fetalis Mutism CNS hypomyelination Atonic seizures Hydrocele testis Subglottic stenosis Broad jaw Sensorineural hearing impairment Visual impairment Depressed nasal bridge Splenomegaly Acidosis Pes cavus Abnormality of the cardiovascular system Apnea Retinal degeneration Wide nose Thick vermilion border Everted lower lip vermilion Full cheeks Syncope Diabetes mellitus Jaundice Horizontal nystagmus Prominent sternum Widely spaced teeth Recurrent upper respiratory tract infections Metaphyseal widening Restrictive ventilatory defect Hypoplasia of the odontoid process Ovoid vertebral bodies Disproportionate short-trunk short stature Thoracolumbar kyphosis Hip pain Cervical myelopathy Abnormal vertebral morphology Ulnar deviation of the wrist Decreased beta-galactosidase activity Cervical subluxation Flaring of rib cage Grayish enamel Keratan sulfate excretion in urine Epiphyseal deformities of tubular bones Constricted iliac wings Pointed proximal second through fifth metacarpals Coxa valga Carious teeth Abnormality of the kidney Polysplenia Cirrhosis Hepatic failure Polymicrogyria Postaxial polydactyly Spontaneous abortion Type I diabetes mellitus Polycystic kidney dysplasia Preauricular pit Enlarged kidney Asplenia Platyspondyly Short sternum Portal fibrosis Pancreatic fibrosis Glutaric acidemia Ureteral atresia Hearing impairment Severe short stature Osteoporosis Abnormality of the nervous system Joint laxity Bicuspid aortic valve Macroglossia Broad thumb Increased serum beta-hexosaminidase Cardiomegaly Dry skin Arthritis Abnormality of the hand Hyperkeratosis Flared iliac wings Abnormality of the rib cage Flat capital femoral epiphysis Increased serum iduronate sulfatase activity Abnormality of the dentition Pectus carinatum Muscle weakness Hypertonia Dilatation Elfin facies Medullary nephrocalcinosis Infantile hypercalcemia Polyhydramnios High forehead Hepatosplenomegaly Inflammatory abnormality of the skin Mitral regurgitation Hypercalcemia Tricuspid regurgitation Short philtrum Broad forehead Dolichocephaly Joint hyperflexibility Long face Prominent nose Abnormality of the skin Mitral valve prolapse Dental crowding Abnormal heart valve morphology Atopic dermatitis High palate Low-set ears Ptosis Myopia Micrognathia Intellectual disability, mild Calcification of the aorta Arthralgia Pulmonary edema Pes planus Polyuria Hypercalciuria Abnormality of the pinna Hernia Abnormal biliary tract morphology Peripheral arterial stenosis Abnormal liver parenchyma morphology Seizures Nystagmus Strabismus Feeding difficulties Ventriculomegaly Hypoplasia of the corpus callosum Areflexia Peripheral pulmonary artery stenosis Hyporeflexia Myoclonus Umbilical hernia EEG abnormality Pulmonary artery stenosis Severe global developmental delay Abnormality of the cerebral white matter Bulbous nose Short palm Tapered finger Choroid plexus cyst Arterial stenosis Nephrocalcinosis Portal hypertension Nephrolithiasis Thick lower lip vermilion Dehydration Encephalocele Lethargy Large fontanelles Abnormality of the eye Weight loss Multicystic kidney dysplasia Occipital encephalocele Meningoencephalocele Postaxial foot polydactyly Right ventricular hypertrophy Abnormality of the pancreas Vomiting Congenital hepatic fibrosis Muscular hypotonia Tapetoretinal degeneration Cystic renal dysplasia Failure to thrive Supravalvular aortic stenosis Intimal thickening in the coronary arteries



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Abnormality of skin pigmentation, related diseases and genetic alterations Dysarthria and Abnormal blistering of the skin, related diseases and genetic alterations High palate and Acidosis, related diseases and genetic alterations Hypertension and Abnormal cardiac septum morphology, related diseases and genetic alterations Cataract and Microphthalmia, related diseases and genetic alterations

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