Abnormal facial shape, and Abnormality of cardiovascular system morphology

Diseases related with Abnormal facial shape and Abnormality of cardiovascular system morphology

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Abnormality of cardiovascular system morphology that can help you solving undiagnosed cases.


Top matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6


Related symptoms:

  • Abnormal facial shape
  • Hyperhidrosis
  • Postaxial hand polydactyly
  • Broad phalanges of the 5th finger


SOURCES: OMIM MENDELIAN

More info about POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6

Low match MENTAL RETARDATION, X-LINKED 100; MRX100


Related symptoms:

  • Intellectual disability
  • Seizures
  • Abnormal facial shape
  • Poor speech
  • Generalized-onset seizure


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 100; MRX100

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Other less relevant matches:

Low match DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37


Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Rod-cone dystrophy
  • Bilateral sensorineural hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37

Low match DIAMOND-BLACKFAN ANEMIA 4; DBA4


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Atrial septal defect


SOURCES: MESH OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 4; DBA4

Low match SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5


Specific language impairment-5 is characterized by a delay in early speech acquisition and is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable. This type of disorder is observed most commonly among individuals of East Asian descent (summary by Wiszniewski et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Delayed speech and language development
  • Autism
  • Autistic behavior


SOURCES: OMIM MENDELIAN

More info about SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5

Low match RENAL HYPODYSPLASIA/APLASIA 2; RHDA2


Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT ), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014).For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (OMIM ).

Related symptoms:

  • Falls
  • Pulmonary hypoplasia
  • Renal agenesis
  • Renal dysplasia
  • Redundant skin


SOURCES: OMIM MENDELIAN

More info about RENAL HYPODYSPLASIA/APLASIA 2; RHDA2

Low 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

Low match BRANCHIOOTORENAL SYNDROME 2; BOR2


Related symptoms:

  • Hearing impairment
  • Renal insufficiency
  • Renal agenesis
  • Renal hypoplasia
  • Renal dysplasia


SOURCES: OMIM MENDELIAN

More info about BRANCHIOOTORENAL SYNDROME 2; BOR2

Low match MENTAL RETARDATION, X-LINKED 97; MRX97


MENTAL RETARDATION, X-LINKED 97; MRX97 Is also known as mental retardation, x-linked 65|mrx65|mrxz

Related symptoms:

  • Intellectual disability
  • Delayed speech and language development
  • Motor delay
  • Prominent forehead
  • Macrotia


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 97; MRX97

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormality of cardiovascular system morphology

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Poor speech Rare - less than 30% cases
Seizures Rare - less than 30% cases
Delayed speech and language development Rare - less than 30% cases
Renal agenesis Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Abnormality of cardiovascular system morphology. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Hearing impairment Renal dysplasia Global developmental delay Prominent forehead Pulmonary artery stenosis Redundant skin Unilateral renal agenesis Bilateral renal agenesis Long face Potter facies Edema Arrhythmia Pulmonic stenosis Abnormality of the cardiovascular system Hydrops fetalis Aortic valve stenosis Peripheral arterial stenosis Motor delay Peripheral pulmonary artery stenosis Arterial stenosis Supravalvular aortic stenosis Synophrys Renal hypoplasia Preauricular skin tag Preauricular pit Severe hearing impairment Intellectual disability, moderate Hemifacial hypoplasia Macrotia Bilateral renal dysplasia Renal insufficiency Peripheral demyelination Pulmonary hypoplasia Congenital stationary night blindness Cognitive impairment Tremor Dystonia Myoclonus Hyperhidrosis Postaxial hand polydactyly Broad phalanges of the 5th finger Generalized-onset seizure Sensorineural hearing impairment Rod-cone dystrophy Bilateral sensorineural hearing impairment Congenital sensorineural hearing impairment Vestibular dysfunction Morphological abnormality of the vestibule of the inner ear Falls Short stature Growth delay Anemia Atrial septal defect Hernia Neutropenia Macrocytic anemia Increased mean corpuscular volume Reticulocytopenia Erythroid hypoplasia Autism Autistic behavior Abnormality of the cerebral white matter Language impairment Broad face



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