Abnormal facial shape, and Pulmonic stenosis

Diseases related with Abnormal facial shape and Pulmonic stenosis

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Pulmonic 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 NOONAN SYNDROME 9; NS9


Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 9; NS9

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Other less relevant matches:

Medium match NOONAN SYNDROME 5; NS5


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

Medium match PITT-HOPKINS-LIKE SYNDROME


Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about PITT-HOPKINS-LIKE SYNDROME

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 NOONAN SYNDROME 7; NS7


Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Medium match GRANGE SYNDROME


Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

Medium match CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Medium match NOONAN SYNDROME 3; NS3


Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Atrial septal defect Webbed neck Short neck Downslanted palpebral fissures Mitral valve prolapse Dolichocephaly High palate Macrocephaly Aortic valve stenosis Generalized hypotonia Arrhythmia

Rare Symptoms - Less than 30% cases


Anteverted nares Hyperkeratosis Wide mouth Arterial stenosis Posteriorly rotated ears Broad forehead Epicanthus Patent ductus arteriosus Failure to thrive Prominent forehead Scoliosis Sparse eyebrow Strabismus Cardiomyopathy Ventricular septal defect Cognitive impairment Feeding difficulties Mild short stature Curly hair Hypertrophic cardiomyopathy Deep philtrum Aortic regurgitation Cutaneous syndactyly Bicuspid aortic valve Increased susceptibility to fractures Cutaneous finger syndactyly Finger clinodactyly Short palm Decreased body weight Dilatation Pain Hypertension Brachydactyly Renal insufficiency Atrial septal dilatation Syndactyly Clinodactyly Specific learning disability Juvenile myelomonocytic leukemia Abnormal heart morphology Abdominal pain Hypoplastic nasal bridge Gastritis Recurrent fractures Perimembranous ventricular septal defect Myopia Intellectual disability, borderline Peripheral axonal neuropathy Craniosynostosis Polyhydramnios Pectus excavatum Short nose Frontal bossing Neuropathic arthropathy Arthropathy Absent eyebrow Bilateral ptosis Hemangioma Fine hair Ichthyosis Pterygium Cystic hygroma Coronary artery stenosis Scaphocephaly Sparse hair Sagittal craniosynostosis Low-set, posteriorly rotated ears Coarse facial features High forehead Myeloproliferative disorder Poor suck Proptosis Leukemia Peripheral neuropathy Carotid artery stenosis Renovascular hypertension Renal artery stenosis Thickened helices Short philtrum Hyperpigmentation of the skin Nephrocalcinosis Thick vermilion border Mandibular prognathia Hyperkeratosis pilaris Sparse and thin eyebrow Coarctation of aorta Abnormal cardiac septum morphology Cryptorchidism Elfin facies Medullary nephrocalcinosis Infantile hypercalcemia Polyuria Hypercalcemia Hypercalciuria Nephrolithiasis Seizures Thick lower lip vermilion Dehydration Lethargy Abnormality of the eye Weight loss Vomiting Muscular hypotonia Supravalvular aortic stenosis Peripheral pulmonary artery stenosis Peripheral arterial stenosis Pulmonary artery stenosis Hydrops fetalis Abnormality of the cardiovascular system Edema Abnormality of the sternum Growth delay Narrow forehead Micrognathia Pectus carinatum Abnormality of the skeletal system Dysphagia Depressed nasal bridge Abnormal heart valve morphology Tricuspid regurgitation Dental crowding Abnormality of the skin Prominent nose Long face Joint hyperflexibility Abnormality of the pinna Delayed skeletal maturation Hyperventilation Intellectual disability, severe Protruding tongue Atonic seizures Self-injurious behavior Drooling Stereotypy Broad-based gait Epileptic encephalopathy Unsteady gait Autistic behavior Developmental regression Gastroesophageal reflux Myoclonus Constipation Encephalopathy Dysplastic pulmonary valve



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