Abnormal facial shape, and Abnormality of the cardiovascular system

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

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Abnormality of the cardiovascular system 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 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 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

Low match MENTAL RETARDATION, X-LINKED 101; MRX101


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 101; MRX101

Low match MENTAL RETARDATION, X-LINKED 72; MRX72


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Macrocephaly
  • Obesity


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 72; MRX72

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

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Poor speech Uncommon - Between 30% and 50% cases
Long face Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Macrotia Autism Hearing impairment Delayed speech and language development Renal agenesis Hyperactivity Renal dysplasia Preauricular pit Bilateral renal dysplasia Severe hearing impairment Renal hypoplasia Hemifacial hypoplasia Preauricular skin tag Intellectual disability, moderate Motor delay Prominent forehead Potter facies Synophrys Broad face Strabismus Absent speech Protruding ear Macrocephaly Obesity Dolichocephaly Renal insufficiency Pulmonary hypoplasia Bilateral renal agenesis Rod-cone dystrophy Cognitive impairment Tremor Dystonia Myoclonus Hyperhidrosis Postaxial hand polydactyly Broad phalanges of the 5th finger Generalized-onset seizure Sensorineural hearing impairment Bilateral sensorineural hearing impairment Unilateral renal agenesis Congenital sensorineural hearing impairment Vestibular dysfunction Congenital stationary night blindness Morphological abnormality of the vestibule of the inner ear Autistic behavior Abnormality of the cerebral white matter Peripheral demyelination Language impairment Falls Redundant skin Stereotypy



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