Abnormal facial shape, and Abnormal bleeding

Diseases related with Abnormal facial shape and Abnormal bleeding

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


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Low match HEREDITARY THROMBOCYTOPENIA WITH EARLY-ONSET MYELOFIBROSIS


Thrombocytopenia-6 is an autosomal dominant hematologic disorder characterized by increased bleeding episodes due to reduced platelet count and abnormal platelet morphology resulting from defective megakaryopoiesis. Patients may also have bone abnormalities, including osteoporosis or tooth loss, as well as an increased risk for myelofibrosis (summary by Turro et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see {313900}.

HEREDITARY THROMBOCYTOPENIA WITH EARLY-ONSET MYELOFIBROSIS Is also known as thrombocytopenia, autosomal dominant, 6

Related symptoms:

  • Abnormal facial shape
  • Thrombocytopenia
  • Osteoporosis
  • Deeply set eye
  • Hypotelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY THROMBOCYTOPENIA WITH EARLY-ONSET MYELOFIBROSIS

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2


PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 Is also known as cushing syndrome, adrenal, due to ppnad2|pigmented micronodular adrenocortical disease, primary, 2

Related symptoms:

  • Hypertension
  • Kyphosis
  • Depressivity
  • Osteoporosis
  • Osteopenia


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2

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

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Other less relevant matches:

Low match PRIMARY INTRAOSSEOUS VENOUS MALFORMATION


Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.

PRIMARY INTRAOSSEOUS VENOUS MALFORMATION Is also known as vmos|vascular malformation osseous|osseous venous malformation|intraosseous hemangioma|hemangioma, intraosseous

Related symptoms:

  • Anemia
  • Hernia
  • Visual loss
  • Proptosis
  • Umbilical hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PRIMARY INTRAOSSEOUS VENOUS MALFORMATION

Low match PARIS-TROUSSEAU THROMBOCYTOPENIA


Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about PARIS-TROUSSEAU THROMBOCYTOPENIA

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4


Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4 Is also known as chromosome 19p13 duplication syndrome|cushing syndrome, adrenal, due to ppnad4

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Obesity
  • Depressivity
  • Alopecia


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1


Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1 ), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical DiseaseSee also PPNAD2 (OMIM ), caused by mutation in the PDE11A gene (OMIM ) on chromosome 2q31; PPNAD3 (OMIM ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13; and PPNAD4 (OMIM ), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (OMIM ).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 Is also known as pigmented micronodular adrenocortical disease, primary, 1|cushing syndrome, adrenal, due to ppnad1|adrenocortical nodular dysplasia, primary

Related symptoms:

  • Neoplasm
  • Hypertension
  • Kyphosis
  • Obesity
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1

Low match GASTROINTESTINAL STROMAL TUMOR


Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma|gist

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GASTROINTESTINAL STROMAL TUMOR

Low match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE


Autosomal dominant hyper-IgE recurrent infection syndrome (OMIM ) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999).The autosomal recessive form shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement (Renner et al., 2004).See also TYK2 deficiency (OMIM ), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES and mendelian susceptibility to mycobacterial disease (MSMD ) (Minegishi et al., 2006).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE Is also known as hyper-ige syndrome, autosomal recessive|hies, autosomal recessive

Related symptoms:

  • Neoplasm
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

Low match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

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

Symptoms // Phenotype % cases
Hypertension Uncommon - Between 30% and 50% cases
Bruising susceptibility Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Adrenal hyperplasia Increased circulating cortisol level Obesity Coarse facial features Primary hypercortisolism Moon facies Anemia Osteopenia

Rare Symptoms - Less than 30% cases


Pigmented micronodular adrenocortical disease Mood changes Paradoxical increased cortisol secretion on dexamethasone suppression test Decreased circulating ACTH level Fatigue Thrombocytopenia Abdominal obesity Dorsocervical fat pad Abnormal lung morphology Micrognathia Abnormality of the liver Hepatomegaly Striae distensae Agitation Thin skin Psychosis Round face Mental deterioration Anxiety Kyphosis Truncal obesity Eosinophilia Hemiplegia Combined immunodeficiency Osteomyelitis Meningitis Recurrent skin infections Recurrent bacterial infections Autoimmune hemolytic anemia Increased antibody level in blood Atopic dermatitis Pericarditis Recurrent sinusitis Subarachnoid hemorrhage Schwannoma Recurrent lower respiratory tract infections Esophagitis Recurrent viral infections Paraganglioma Recurrent sinopulmonary infections Recurrent fungal infections Sinusitis Leiomyosarcoma Recurrent otitis media Giant hypertrophic gastritis Esophageal neoplasm Neoplasm of the colon Neoplasm of the rectum Neoplasm of the small intestine Cerebral vasculitis Gastrointestinal obstruction Neoplasm of the gastrointestinal tract Mastocytosis Abnormality of the dentition Gastrointestinal stroma tumor Immunodeficiency Recurrent infections Soft tissue sarcoma Hemolytic anemia Asthma Otitis media Eczema Inflammatory abnormality of the skin Neoplasm of the stomach Low-set, posteriorly rotated ears Recurrent upper and lower respiratory tract infections Pancreatic cysts Polycystic kidney dysplasia Portal hypertension Enlarged kidney Multiple renal cysts Chronic lung disease Atelectasis Esophageal varix Cholangitis Congenital hepatic fibrosis Hepatic cysts Renal hypoplasia/aplasia Tubulointerstitial fibrosis Biliary tract abnormality Portal fibrosis Hypersplenism Hematemesis Potter facies Periportal fibrosis Hypoplasia of the ear cartilage Azotemia Chronic kidney disease Hepatic fibrosis Anaphylactic shock Macrotia Ventricular septal defect Respiratory insufficiency Respiratory distress Atrial septal defect Congestive heart failure Splenomegaly Renal insufficiency Dilatation Respiratory failure Hepatosplenomegaly Cholestasis Irregular hyperpigmentation Abnormality of the kidney Scarring Stage 5 chronic kidney disease Pulmonary hypoplasia Renal cyst Dehydration Oligohydramnios Depressed nasal ridge Lipoma Vomiting Neurofibromas Hemangioma Prolactinoma Increased serum insulin-like growth factor 1 Hernia Visual loss Proptosis Umbilical hernia Facial asymmetry Paraplegia Increased intracranial pressure Pituitary prolactin cell adenoma Elevated alkaline phosphatase Precocious puberty Gingival bleeding Hiatus hernia Spinal cord compression Diastasis recti Facial hyperostosis Intellectual disability Growth delay Pituitary growth hormone cell adenoma Galactorrhea Ptosis Abnormal platelet morphology Deeply set eye Hypotelorism Epistaxis Menorrhagia Petechiae Large forehead Myelofibrosis Spontaneous, recurrent epistaxis Bone marrow hypercellularity Menstrual irregularities Cardiomyopathy Headache Epidermal acanthosis Left ventricular hypertrophy Acanthosis nigricans Growth hormone excess Prolactin excess Pituitary adenoma Neoplasm of the endocrine system Hypertelorism Low-set ears Hypermelanotic macule Weight loss Carcinoma Hypertrichosis Adrenocortical carcinoma Pain Fever Dysphagia Constipation Abdominal pain Pallor Macronodular adrenal hyperplasia Skin rash Nausea and vomiting Abdominal distention Gastrointestinal hemorrhage Hyperpigmentation of the skin Sarcoma Urticaria Intestinal obstruction Large hands Cerebral cortical atrophy Adrenocortical adenoma Intrauterine growth retardation Megakaryocyte dysplasia Long philtrum Syndactyly Clinodactyly Finger syndactyly Abnormality of the cardiovascular system Pyloric stenosis Trigonocephaly Radial deviation of finger Prolonged bleeding time Muscle weakness Ecchymosis Alopecia Diabetes mellitus Proximal muscle weakness Hirsutism Increased body weight Acne Emotional lability Glucose intolerance Fragile skin Absence of renal corticomedullary differentiation



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