Abnormal facial shape, and Bruising susceptibility

Diseases related with Abnormal facial shape and Bruising susceptibility

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Medium 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

Medium match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Medium match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2


Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Ptosis
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

Medium match PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME


Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Medium match CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term).

CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA Is also known as cushing disease, pituitary|primary bilateral macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA

Medium match CUSHING DISEASE


Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

Medium match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Bruising susceptibility

Symptoms // Phenotype % cases
Hypertension Common - Between 50% and 80% cases
Osteoporosis Common - Between 50% and 80% cases
Depressivity Common - Between 50% and 80% cases
Osteopenia Uncommon - Between 30% and 50% cases
Thin skin Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Adrenal hyperplasia Increased circulating cortisol level Obesity Truncal obesity Round face Moon facies Hyperextensible skin Alopecia Abdominal obesity Mitral valve prolapse Pes planus Cutis laxa Pituitary adenoma Diabetes mellitus Kyphosis Failure to thrive Hirsutism Dorsocervical fat pad Increased body weight Acne Fatigue Neoplasm Muscle weakness Primary hypercortisolism Hernia Mood changes Striae distensae Psychosis Downslanted palpebral fissures Anxiety

Rare Symptoms - Less than 30% cases


Scarring Long philtrum Myopathy Inguinal hernia Macrocephaly Arachnodactyly Joint hypermobility Cryptorchidism Redundant skin Dilatation Retrognathia High myopia Lipodystrophy Aortic aneurysm Nephrolithiasis Generalized hirsutism Hypokalemia Premature ovarian insufficiency High palate Abnormality of the vasculature Cardiomyopathy Ecchymosis Agitation Decreased circulating ACTH level Pigmented micronodular adrenocortical disease Coarse facial features Emotional lability Glucose intolerance Fragile skin Mental deterioration Macronodular adrenal hyperplasia Headache Paradoxical increased cortisol secretion on dexamethasone suppression test Dural ectasia Cataract Peripheral edema Menometrorrhagia Adrenocorticotropic hormone excess Abnormal fear/anxiety-related behavior Psychotic mentation Immunodeficiency Visual impairment Increased circulating ACTH level Visual loss Abdominal pain Lethargy Infertility Sleep disturbance Recurrent fractures Abnormality of the menstrual cycle Poor wound healing Facial erythema Amenorrhea Pes valgus Prominent scalp veins Skeletal muscle atrophy Hyperextensibility of the finger joints Edema Entropion Progeroid facial appearance Biconcave vertebral bodies Narrow nose Venous thrombosis Oligomenorrhea Meningioma Alkalosis Vertebral compression fractures Narrow palm Hyperparathyroidism Telangiectasia of the skin Recurrent skin infections High pitched voice Thick lower lip vermilion Sparse scalp hair Decreased body weight Bronchiectasis Gingival overgrowth Sparse and thin eyebrow Hypergonadotropic hypogonadism Increased susceptibility to fractures Prolonged bleeding time Overgrowth Abnormality of the sternum Palpebral edema Generalized osteoporosis Eclabion Urethral stenosis Irregular dentition Abnormal lip morphology Upper eyelid edema Narrow forehead Single transverse palmar crease Menorrhagia Scoliosis Scaphocephaly Generalized hyperpigmentation Aseptic necrosis Bipolar affective disorder Onychomycosis Metrorrhagia Intellectual disability Short stature Muscular hypotonia Everted lower lip vermilion Cognitive impairment Brachydactyly Hypogonadism Umbilical hernia Joint laxity Sparse hair Ichthyosis Thick vermilion border Severe intrauterine growth retardation Carcinoma Aortic root aneurysm Adducted thumb Generalized muscle weakness Pituitary growth hormone cell adenoma Blue sclerae Mitral regurgitation Dental crowding Joint dislocation Delayed gross motor development Pituitary prolactin cell adenoma Increased serum insulin-like growth factor 1 Patent foramen ovale Bilateral talipes equinovarus Facial hypotonia Hypoplasia of the musculature Micrognathia Galactorrhea Ptosis Abnormality of the skeletal system Prolactinoma Talipes Macrotia Talipes equinovarus Adrenocortical carcinoma Global developmental delay Hypertelorism Cerebral cortical atrophy Pain Motor delay Adrenocortical adenoma Frontal bossing Cerebral atrophy Proximal muscle weakness Midface retrusion Brachycephaly Narrow mouth Arthralgia Myalgia Telecanthus Camptodactyly Protruding ear Short neck Menstrual irregularities Reduced subcutaneous adipose tissue Craniosynostosis Left ventricular hypertrophy Hydrocephalus Epidermal acanthosis Pectus excavatum Prominent forehead Proptosis Gastroesophageal reflux Prominent nasal bridge Myopia Arthrogryposis multiplex congenita High, narrow palate Premature birth Oligohydramnios Tall stature Relative macrocephaly Hypertrichosis Ectopia lentis Intrauterine growth retardation Acanthosis nigricans Hip dislocation Hallux valgus Papule Webbed neck Low posterior hairline Osteoarthritis Narrow palate Neoplasm of the endocrine system Prolactin excess Bilateral ptosis Atrophic scars Growth delay Thoracic scoliosis Growth hormone excess Thin eyebrow Knee dislocation Squared iliac bones Shoulder dislocation Ventral hernia Bursitis Infra-orbital fold



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