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:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape


SOURCES: UMLS OMIM MONDO MESH

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6

Related symptoms:

  • Autosomal recessive inheritance
  • Pica
  • Abnormal facial shape
  • Hyperhidrosis
  • Postaxial hand polydactyly


SOURCES: OMIM MONDO UMLS

More info about POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6

Low match MENTAL RETARDATION, X-LINKED 100; MRX100

Related symptoms:

  • Intellectual disability
  • Seizures
  • Abnormal facial shape
  • X-linked recessive inheritance
  • Poor speech


SOURCES: OMIM UMLS MONDO

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

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Other less relevant matches:

Low match RUSSELL-SILVER SYNDROME, X-LINKED

X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.

RUSSELL-SILVER SYNDROME, X-LINKED Is also known as russell-silver-like syndrome with skin pigmentation, partington syndrome;familial cutaneous amyloidosis; pdr; partington disease; x-linked cutaneous amyloidosis; xlpdr

Related symptoms:

  • Intrauterine growth retardation
  • X-linked inheritance
  • Triangular face
  • Cafe-au-lait spot


SOURCES: OMIM ORPHANET

More info about RUSSELL-SILVER SYNDROME, X-LINKED

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:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Abnormal facial shape
  • Delayed speech and language development
  • Abnormality of the genital system


SOURCES: UMLS MONDO OMIM EFO

More info about SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5

Low match NOONAN SYNDROME 5; NS5

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Abnormal facial shape
  • Short neck


SOURCES: GARD OMIM DOID UMLS MESH MONDO

More info about NOONAN SYNDROME 5; NS5

Low match DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37

Related symptoms:

  • Autosomal recessive inheritance
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Rod-cone dystrophy


SOURCES: UMLS MESH DOID MONDO OMIM

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:

  • Autosomal dominant inheritance
  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: MONDO MESH UMLS OMIM

More info about DIAMOND-BLACKFAN ANEMIA 4; DBA4

Low match OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Delayed speech and language development
  • Obesity
  • Severe global developmental delay


SOURCES: MESH MONDO UMLS OMIM

More info about OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD

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:

  • Autosomal recessive inheritance
  • Polyhydramnios
  • Pulmonary hypoplasia
  • Renal agenesis
  • Redundant skin


SOURCES: UMLS MONDO OMIM

More info about RENAL HYPODYSPLASIA/APLASIA 2; RHDA2

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

Symptoms // Phenotype % cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Autosomal dominant inheritance Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Atrial septal defect Rare - less than 30% cases
Delayed speech and language development 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


Short stature Intellectual disability Seizures Vestibular dysfunction Macrocytic anemia Congenital stationary night blindness Morphological abnormality of the vestibule of the inner ear Growth delay Anemia Hernia Congenital sensorineural hearing impairment Neutropenia Obesity Reticulocytopenia Erythroid hypoplasia Rod-cone dystrophy Severe global developmental delay Facial asymmetry Stereotypy Polyphagia Overweight Anterior plagiocephaly Polyhydramnios Pulmonary hypoplasia Renal agenesis Redundant skin Bilateral renal agenesis Potter facies Bilateral sensorineural hearing impairment Hypertrophic cardiomyopathy Sensorineural hearing impairment Poor speech Cognitive impairment Infantile onset Tremor Dystonia Myoclonus Clonus Pica Hyperhidrosis Postaxial hand polydactyly Broad phalanges of the 5th finger X-linked recessive inheritance Generalized seizures Hearing impairment Intrauterine growth retardation X-linked inheritance Triangular face Cafe-au-lait spot Abnormality of the genital system Autism Autistic behavior Peripheral demyelination Language impairment Short neck Webbed neck Abnormality of the sternum Ureteral agenesis



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