Abnormal facial shape, and Abnormal heart morphology

Diseases related with Abnormal facial shape and Abnormal heart morphology

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

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Other less relevant matches:

Low match NEPHRONOPHTHISIS 20; NPHP20

Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by Macia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Rod-cone dystrophy


SOURCES: OMIM DOID MONDO UMLS

More info about NEPHRONOPHTHISIS 20; NPHP20

Low match PITUITARY ADENOMA 1, MULTIPLE TYPES; PITA1

Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors.Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (OMIM )-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (OMIM )-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB )-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008).Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008).Cushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015).Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007).Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem. Genetic Heterogeneity of Pituitary AdenomasAlso see pituitary adenoma-2 (PITA2 ), caused by mutation in the GPR101 gene (OMIM ); pituitary adenoma-3 (PITA3 ), caused by somatic activating mutations in the GNAS1 gene (OMIM ); pituitary adenoma-4 (PITA4 ), caused by somatic mutation in the USP8 gene (OMIM ); and pituitary adenoma-5 (PITA5 ), caused by mutation in the CDH23 gene (OMIM ).Patients with the chromosome Xq26.3 microduplication syndrome (OMIM ) have growth hormone-secreting adenomas.Familial acromegaly can also occur in association with multiple endocrine neoplasia type I (MEN1 ), Carney complex (CNC1 ), and the McCune-Albright syndrome (OMIM ).Rostomyan et al. (2015) performed a retrospective analysis of 208 patients with pituitary gigantism due to pituitary adenoma or hyperplasia. Most patients (78.4%) were male, and the median onset of rapid growth was 13 years of age for boys and 11 years for girls. Of the 143 patients who consented to genetic testing, 29% had AIP mutations, and microduplication at Xq26.3 (XLAG ) was present in 2 familial isolated pituitary adenoma kindreds and in 10 sporadic patients. Rostomyan et al. (2015) noted that no genetic etiology was identified in more than 50% of the cases, and that the genetically unexplained cases showed more aggressive disease in terms of invasion, hormone levels, and lower control rates.

PITUITARY ADENOMA 1, MULTIPLE TYPES; PITA1 Is also known as somatotropinoma, familial isolated;fis, isolated familial somatotropinoma;ifs, somatotrophinoma, familial, acromegaly due to pituitary adenoma 1, pagh1;fipa

Related symptoms:

  • Autosomal dominant inheritance
  • Milia
  • Neoplasm
  • Nevus
  • Hypertension


SOURCES: ORPHANET OMIM

More info about PITUITARY ADENOMA 1, MULTIPLE TYPES; PITA1

Low match TATTON-BROWN-RAHMAN SYNDROME; TBRS

Tatton-Brown-Rahman syndrome is a disorder characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TATTON-BROWN-RAHMAN SYNDROME; TBRS Is also known as ;dnmt3a-related overgrowth syndrome; tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Scoliosis
  • Macrocephaly


SOURCES: ORPHANET MONDO OMIM UMLS

More info about TATTON-BROWN-RAHMAN SYNDROME; TBRS

Low match CHROMOSOME Xq26.3 DUPLICATION SYNDROME

X-linked acrogigantism (XLAG), due to microduplications of chromosome Xq26.3, is characterized by excessive growth, usually beginning during the first year of life in previously normal infants. The overgrowth is caused by growth hormone (GH1 ) hypersecretion from pituitary hyperplasia and/or a pituitary macroadenoma. XLAG can occur as a sporadic condition or present as familial isolated pituitary adenomas (FIPAs) in acrogigantism kindreds (Beckers et al., 2015).

CHROMOSOME Xq26.3 DUPLICATION SYNDROME Is also known as chromosome xq26 microduplication syndrome, x-linked acrogigantism;xlag;familial infantile gigantism due to xq26 microduplication; familial infantile gigantism due to dup(x)q(26); x-lag (x-linked acrogigantism) due to dup(x)q(26)

Related symptoms:

  • Pica
  • Neoplasm
  • Coarse facial features
  • Ventricular hypertrophy
  • X-linked dominant inheritance


SOURCES: MONDO OMIM ORPHANET UMLS

More info about CHROMOSOME Xq26.3 DUPLICATION SYNDROME

Low match HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY

Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.

HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY Is also known as ;hypermethioninemia due to s-adenosylhomocysteine hydrolase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET MONDO UMLS SCTID GARD DOID OMIM

More info about HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY

Low match CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM

Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Abnormal facial shape
  • Flexion contracture
  • Ventricular septal defect


SOURCES: OMIM

More info about CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM

Low match POLYCYSTIC KIDNEY DISEASE 2; PKD2

Type 2 ADPKD is linked to gene mutation at the PKD2 locus on the long arm of CHROMOSOME 4.

POLYCYSTIC KIDNEY DISEASE 2; PKD2 Is also known as polycystic kidney disease, adult, type ii;apkd2

Related symptoms:

  • Autosomal dominant inheritance
  • Hypertension
  • Renal insufficiency
  • Midface retrusion
  • Polyhydramnios


SOURCES: SCTID UMLS OMIM NCIT DOID MONDO

More info about POLYCYSTIC KIDNEY DISEASE 2; PKD2

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormal heart morphology

Symptoms // Phenotype % cases
Autosomal dominant inheritance Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Autosomal recessive inheritance Global developmental delay

Rare Symptoms - Less than 30% cases


Tall stature Pituitary adenoma Growth hormone excess Acanthosis nigricans Overgrowth Coarse facial features Failure to thrive Cardiomyopathy Hypertension Neoplasm Situs inversus totalis Stage 5 chronic kidney disease Renal cyst Progressive Abnormal cardiac septum morphology Seizures Hernia Reticulocytopenia Hypertyrosinemia Abnormality of the genital system Pectus excavatum Abnormality of cardiovascular system morphology Short nose Abnormality of the skeletal system Ventricular septal defect Flexion contracture Hypermethioninemia Cholestasis Poor head control Joint laxity Hepatitis Hepatic failure Abnormality of the dentition Motor delay Generalized hypotonia Snoring Long foot Broad forehead Polyphagia Nephropathy Renal cortical cysts Hepatic cysts Elevated serum creatinine Dextrocardia Polycystic kidney dysplasia Recurrent urinary tract infections Oligohydramnios Hematuria Abnormality of the kidney Abnormality of the foot Facial asymmetry Respiratory failure Polyhydramnios Midface retrusion Renal insufficiency Narrow maxilla Narrow nose Short chin Pointed chin Hypopituitarism Large hands Sleep apnea Nevus Somatic mutation Clonus Left ventricular hypertrophy Epidermal acanthosis Headache Short neck Hypertrophic cardiomyopathy Webbed neck Abnormality of the sternum Myoclonus Milia Nephronophthisis Growth delay Anemia Polydactyly Absent speech Neutropenia Rod-cone dystrophy Macrocytic anemia Prolactin excess Dystonia Erythroid hypoplasia Round face Precocious puberty Accelerated skeletal maturation X-linked dominant inheritance Ventricular hypertrophy Pica Horizontal eyebrow Narrow palpebral fissure Cognitive impairment Infantile onset Tremor Neoplasm of the endocrine system Blepharophimosis Umbilical hernia Macrocephaly Increased serum insulin-like growth factor 1 Prolactinoma Pituitary growth hormone cell adenoma Pituitary prolactin cell adenoma Galactorrhea Menstrual irregularities Multiple glomerular cysts



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