Abnormal facial shape, and Cardiomyopathy

Diseases related with Abnormal facial shape and Cardiomyopathy

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


Top matches:

Low match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27


CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (OMIM ).An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (OMIM ), and MYL3 (OMIM ) genes has also been reported in 1 family.

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • High palate
  • Cardiomyopathy
  • Edema


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27

Low match LEFT VENTRICULAR NONCOMPACTION


Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.

LEFT VENTRICULAR NONCOMPACTION Is also known as spongy myocardium|lvnc|left ventricular hypertrabeculation|left ventricular noncompaction 1 with or without congenital heart defects

Related symptoms:

  • Abnormal facial shape
  • Ventricular septal defect
  • Respiratory distress
  • Congestive heart failure
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION

Low match MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB


MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB Is also known as myopathy, hyaline body, autosomal recessive

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • High palate
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match FAMILIAL ISOLATED PITUITARY ADENOMA


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.

FAMILIAL ISOLATED PITUITARY ADENOMA Is also known as somatotropinoma, familial isolated|pagh1|somatotrophinoma, familial|ifs|isolated familial somatotropinoma|fipa|acromegaly due to pituitary adenoma 1|fis

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Cardiomyopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED PITUITARY ADENOMA

Low match MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2; MGRISCE2


MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM ), but patients with mutations in the TOP3A gene do not have a malar rash (summary by Martin et al., 2018).For a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; {210900})

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2; MGRISCE2

Low 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

Low 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

Low match LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME


Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

Low match MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Low 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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Cardiomyopathy

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases
Dilated cardiomyopathy Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Pulmonic stenosis High palate Microcephaly Left ventricular noncompaction Congestive heart failure Low-set ears Arrhythmia Left ventricular hypertrophy

Rare Symptoms - Less than 30% cases


Ptosis Restrictive cardiomyopathy Failure to thrive Intrauterine growth retardation Macrocephaly Growth delay Downslanted palpebral fissures Coarse facial features Hypertension Seizures Micrognathia Anteverted nares Short neck Atrial septal defect Wide mouth Ventricular septal defect Depressivity Hydrops fetalis Ventricular arrhythmia Patent ductus arteriosus Gastritis Finger clinodactyly Abnormal heart morphology Abdominal pain Short palm Recurrent fractures Specific learning disability Decreased body weight Aortic regurgitation Arterial stenosis Cutaneous syndactyly Clinodactyly Bicuspid aortic valve Increased susceptibility to fractures Cutaneous finger syndactyly Perimembranous ventricular septal defect Posteriorly rotated ears Mitral valve prolapse Ichthyosis Sparse eyebrow Thick vermilion border Webbed neck Arthropathy Curly hair Absent eyebrow Abnormality of the sternum Bilateral ptosis Coronary artery stenosis Pain Brachydactyly Hemangioma Renal insufficiency Syndactyly Dilatation Fine hair Intellectual disability, borderline Renal artery stenosis Myopia Short foot Proptosis Pneumonia Cerebellar hypoplasia Agenesis of corpus callosum Severe short stature Craniosynostosis Small hand Round face Spasticity Prominent nose Hyperkeratosis Sloping forehead Mild short stature Cortical gyral simplification Partial agenesis of the corpus callosum Metaphyseal sclerosis Peripheral neuropathy Absent speech Hyperalaninemia Peripheral axonal neuropathy Low-set, posteriorly rotated ears Renovascular hypertension Carotid artery stenosis Broad forehead Generalized hypotonia Sparse hair Cataract Feeding difficulties Depressed nasal bridge Hypertonia Neuronal loss in central nervous system Midface retrusion Acidosis Deeply set eye Facial asymmetry High forehead Bulbous nose Gliosis Increased serum lactate Lactic acidosis Skin rash Mandibular prognathia Biventricular hypertrophy Left bundle branch block Wolff-Parkinson-White syndrome Concave nasal ridge Abnormal myocardium morphology Abnormal left ventricle morphology Abnormal thrombosis Right ventricular failure Permanent atrial fibrillation Hypoplastic left heart Left ventricular noncompaction cardiomyopathy Noncompaction cardiomyopathy Abnormality of the fascia Scoliosis Muscle weakness Skeletal muscle atrophy Respiratory insufficiency Myopathy Pulmonary embolism Right bundle branch block Respiratory failure Multiple pterygia Edema Cardiomegaly Ventricular hypertrophy Cardiac arrest Pterygium Tricuspid regurgitation Right ventricular hypertrophy Respiratory distress Bundle branch block Tachycardia Sudden cardiac death Syncope Atrial fibrillation Mitral regurgitation Exercise intolerance Ventricular tachycardia Atrioventricular block Elevated serum creatine phosphokinase Proximal muscle weakness Prominent forehead Dorsocervical fat pad Neoplasm of the endocrine system Menstrual irregularities Abdominal obesity Galactorrhea Pituitary prolactin cell adenoma Pituitary growth hormone cell adenoma Moon facies Prolactinoma Prolactin excess Increased serum insulin-like growth factor 1 Frontal bossing Recurrent infections Gastroesophageal reflux Cafe-au-lait spot Reduced subcutaneous adipose tissue Malar rash Epicanthus Pituitary adenoma Growth hormone excess Lower limb muscle weakness Reduced vital capacity Long face Progressive muscle weakness Scapular winging EMG: myopathic abnormalities Myopathic facies Mildly elevated creatine phosphokinase Centrally nucleated skeletal muscle fibers Type 1 muscle fiber predominance Scapuloperoneal amyotrophy Acanthosis nigricans Civatte bodies Scapuloperoneal weakness Neoplasm Fatigue Headache Obesity Bruising susceptibility Epidermal acanthosis Neuropathic arthropathy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Hypertriglyceridemia, related diseases and genetic alterations Hepatomegaly and Renal dysplasia, related diseases and genetic alterations Brachydactyly and Glaucoma, related diseases and genetic alterations Muscle weakness and Splenomegaly, related diseases and genetic alterations Micrognathia and Renal cyst, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more