Edema, and Hirsutism

Diseases related with Edema and Hirsutism

In the following list you will find some of the most common rare diseases related to Edema and Hirsutism that can help you solving undiagnosed cases.

Top matches:

Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, Cantù type (see these terms).

HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as haff|hypertrichosis-coarse face syndrome|hypertrichosis-acromegaloid facial features syndrome

Related symptoms:

  • Intellectual disability
  • Coarse facial features
  • Blepharophimosis
  • Joint hyperflexibility
  • Bulbous nose


SOURCES: ORPHANET MENDELIAN

More info about HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME

A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES.

OVARIAN HYPERSTIMULATION SYNDROME Is also known as ovarian hyperstimulation syndrome, familial gestational spontaneous|ohss

Related symptoms:

  • Abdominal pain
  • Nausea and vomiting
  • Infertility
  • Nausea
  • Hirsutism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OVARIAN HYPERSTIMULATION SYNDROME

Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency|pct|pct, type ii|pct, 'familial' type|urod deficiency|porphyria cutanea tarda, type ii|porphyria, hepatocutaneous type

Related symptoms:

  • Anemia
  • Edema
  • Alopecia
  • Carcinoma
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORPHYRIA CUTANEA TARDA

Other less relevant matches:

Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.

CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY Is also known as cah due to 3-beta-hydroxysteroid dehydrogenase deficiency

Related symptoms:

  • Cryptorchidism
  • Feeding difficulties
  • Vomiting
  • Hypospadias
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY

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

Low 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

NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by Falik Zaccai et al., 2017 and Hall et al., 2017).

PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER Is also known as plaand

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER

Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997).

CHONDRODYSPLASIA, GREBE TYPE Is also known as grebe chondrodysplasia|grebe dysplasia|achondrogenesis, brazilian|acromesomelic dysplasia, grebe type|amdg|achondrogenesis, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA, GREBE TYPE

Top 5 symptoms//phenotypes associated to Edema and Hirsutism

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Palpebral edema Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Hirsutism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Osteoporosis Generalized hirsutism Kyphosis Everted lower lip vermilion

Rare Symptoms - Less than 30% cases

Bruising susceptibility Seizures Micrognathia Cerebellar hypoplasia Agenesis of corpus callosum Postaxial polydactyly Thick lower lip vermilion Pectus carinatum Growth delay Failure to thrive Coarse facial features Low-set ears Hypertonia Polydactyly Sparse hair Narrow forehead Flexion contracture Scoliosis Abnormality of the menstrual cycle Short stature High palate Adrenocorticotropic hormone excess Brachydactyly Long philtrum Increased circulating ACTH level Hernia Upper eyelid edema Umbilical hernia Single transverse palmar crease Glucose intolerance Acne Hypertrichosis Feeding difficulties Cryptorchidism Thin skin Posteriorly rotated ears Enlarged polycystic ovaries Hypovolemia Peripheral edema Gingival overgrowth Thick vermilion border Genu valgum Decreased body weight Sparse scalp hair High myopia Overgrowth Short humerus Joint hypermobility Ichthyosis Joint laxity Pes planus Fibular hypoplasia Retrognathia Hypogonadism Bronchiectasis Hypergonadotropic hypogonadism Sparse and thin eyebrow Dilatation Prolonged neonatal jaundice Cutis laxa Hallux valgus Hyperextensible skin Redundant skin Increased susceptibility to fractures Aortic aneurysm Premature ovarian insufficiency High pitched voice Prolonged bleeding time Abnormality of the sternum Abnormality of the vasculature Generalized osteoporosis Short tibia Short femur Dysostosis multiplex Short digit Striae distensae Increased circulating cortisol level Oligomenorrhea Meningioma Aplasia/Hypoplasia of metatarsal bones Pituitary adenoma Alkalosis Vertebral compression fractures Ecchymosis Acromesomelia Poor wound healing Abdominal obesity Biconcave vertebral bodies Facial erythema Mood changes Urethral stenosis Cognitive impairment Short 1st metacarpal Downslanted palpebral fissures Macrocephaly Constrictive median neuropathy Aplasia/Hypoplasia of the patella Pes valgus Muscular hypotonia Menometrorrhagia Aplasia/Hypoplasia involving the metacarpal bones Psychotic mentation Abnormal fear/anxiety-related behavior Macronodular adrenal hyperplasia Dorsocervical fat pad Moon facies Eclabion Metatarsus adductus Irregular dentition Long fingers Hypsarrhythmia Tetraparesis Abnormality of the ribs Postaxial hand polydactyly Progressive microcephaly Spastic tetraparesis Leukoencephalopathy Tented upper lip vermilion Poor suck Limb undergrowth Macroglossia Short foot Paresthesia Rocker bottom foot Progressive spasticity Abnormality of extrapyramidal motor function Bulbar palsy Central hypotonia Hypomimic face Central apnea Exaggerated startle response Contractures of the large joints Progressive leukoencephalopathy Hearing impairment Abnormality of the skeletal system Talipes equinovarus Inguinal hernia Severe short stature Jaundice Talipes Intellectual disability, profound Delayed myelination Hepatosplenomegaly Cerebellar atrophy Abnormal lip morphology Infra-orbital fold Generalized hypotonia Hypoplasia of the ulna Short middle phalanx of finger Heart murmur Nystagmus Spasticity Delayed speech and language development Optic atrophy Dysphagia Ventriculomegaly Respiratory insufficiency Hypoplasia of the corpus callosum Short nose Osteoarthritis Muscular hypotonia of the trunk Smooth philtrum Severe global developmental delay Short phalanx of finger Hydrops fetalis Apnea Aortic regurgitation Rigidity Pneumonia Disproportionate short-limb short stature Recurrent upper respiratory tract infections Truncal obesity Cerebral cortical atrophy Hyperhidrosis Hypoplasia of the radius Hyperparathyroidism Abnormality of the labia majora Emotional lability Anemia of inadequate production Hyperpigmentation in sun-exposed areas Porphyrinuria Viral hepatitis Facial hypertrichosis Congenital hypoplastic anemia Alcoholism Onycholysis Pain Atypical scarring of skin Hepatocellular carcinoma Scleroderma Fragile skin Skin vesicle Hypopigmented skin patches Abnormal facial shape Short neck Hyperpigmentation of the skin Agyria Low-set, posteriorly rotated ears Absent speech Intellectual disability, severe Anteverted nares Strabismus Ataxia Hand clenching Myopathy Centrally nucleated skeletal muscle fibers Lissencephaly Lymphedema Full cheeks Arthrogryposis multiplex congenita Respiratory failure Areflexia Cerebral palsy Inflammatory abnormality of the skin Poor speech Nausea and vomiting Abnormality of the genitourinary system Aspiration Abdominal distention Ascites Nausea Infertility Abdominal pain Increased circulating gonadotropin level Oral synechia Furrowed tongue Abnormality of the hand Bulbous nose Joint hyperflexibility Blepharophimosis Pleural effusion Generalized edema Cutaneous photosensitivity Skin rash Hepatitis Abnormal blistering of the skin Sudden cardiac death Hepatic steatosis Hemolytic anemia Cirrhosis Abnormality of the liver Pulmonary edema Erythema Carcinoma Anemia Hemorrhagic ovarian cyst Capillary leak Increased serum testosterone level Ovarian cyst Protruding ear Thick eyebrow Hypokalemia Decreased fertility in females Female external genitalia in individual with 46,XY karyotype Hypernatriuria Premature adrenarche Decreased fertility in males Adrenogenital syndrome Ambiguous genitalia, female Abnormal glucose tolerance Enlarged ovaries Congenital adrenal hyperplasia Urogenital sinus anomaly Increased circulating renin level Perineal hypospadias Ambiguous genitalia, male Elevated circulating luteinizing hormone level Abnormal sex determination Androgen insufficiency Abnormal vagina morphology Depressivity Increased body weight Nephrolithiasis Amenorrhea Round face Osteopenia Diabetes mellitus Obesity Abnormal oral glucose tolerance Fatigue Skeletal muscle atrophy Hypertension Muscle weakness Neoplasm Ectopic adrenal gland Hyperpigmented genitalia Decreased circulating aldosterone level Absence of secondary sex characteristics Highly arched eyebrow Nonprogressive cerebellar ataxia Hypotension Delayed puberty Acidosis Delayed skeletal maturation Hypospadias Vomiting Congenital microcephaly Dehydration Limb hypertonia Partial agenesis of the corpus callosum Aplasia/Hypoplasia of the corpus callosum Low anterior hairline Long eyelashes Cerebellar vermis hypoplasia Abnormal cerebellum morphology Decreased testicular size Ambiguous genitalia Elevated circulating follicle stimulating hormone level Decreased fertility Decreased circulating cortisol level Renal salt wasting Male pseudohermaphroditism Neonatal hypoglycemia Primary adrenal insufficiency Generalized hyperpigmentation Hyperkalemia Insulin resistance Bifid scrotum Clitoral hypertrophy Hyponatremia Polycystic ovaries Reduced bone mineral density Accelerated skeletal maturation Gynecomastia Valgus hand deformity


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