Pain, and Hypertrichosis

Diseases related with Pain and Hypertrichosis

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


Top matches:

Low match WAARDENBURG-SHAH SYNDROME


Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).

WAARDENBURG-SHAH SYNDROME Is also known as shah-waardenburg syndrome|waardenburg-hirschsprung syndrome|ws4|waardenburg syndrome type 4

Related symptoms:

  • Hearing impairment
  • Wide nasal bridge
  • Constipation
  • Abdominal pain
  • Telecanthus


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG-SHAH SYNDROME

Low match ADRENOCORTICAL CARCINOMA


Adrenocortical carcinoma (ACC) is a cancer that arises from the adrenal cortex.

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADRENOCORTICAL CARCINOMA

Low match ACQUIRED PARTIAL LIPODYSTROPHY


Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

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Other less relevant matches:

Low match HEREDITARY COPROPORPHYRIA


Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.

HEREDITARY COPROPORPHYRIA Is also known as cpox deficiency|cpx deficiency|coproporphyrinogen oxidase deficiency|cpo deficiency

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Hypertension


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY COPROPORPHYRIA

Low match PORPHYRIA VARIEGATA


Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

PORPHYRIA VARIEGATA Is also known as variegate porphyria|ppox deficiency|porphyria, south african type|protoporphyrinogen oxidase deficiency|vp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA VARIEGATA

Low match SIALURIA


Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

Low match HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS


Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

Low match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Low match ACROMEGALY


Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

Low match HAJDU-CHENEY SYNDROME; HJCYS


Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011).

HAJDU-CHENEY SYNDROME; HJCYS Is also known as acroosteolysis with osteoporosis and changes in skull and mandible|sfpks|cheney syndrome|arthrodentoosteodysplasia|serpentine fibula-polycystic kidney syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about HAJDU-CHENEY SYNDROME; HJCYS

Top 5 symptoms//phenotypes associated to Pain and Hypertrichosis

Symptoms // Phenotype % cases
Synophrys Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
Anxiety Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Pain and Hypertrichosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Coarse facial features Diabetes mellitus Short stature Arthralgia Abnormal facial shape Low-set ears Epicanthus Frontal bossing Muscle weakness Intellectual disability Abnormality of metabolism/homeostasis Hearing impairment Neoplasm Constipation Hirsutism Paralysis Generalized hirsutism Depressivity

Rare Symptoms - Less than 30% cases


Psychosis Hallucinations Visual hallucinations Insomnia Vomiting Diarrhea Splenomegaly Fragile skin Thin skin Hepatosplenomegaly Cutaneous photosensitivity Elevated hepatic transaminase Nausea and vomiting Confusion Paresthesia Nausea Tachycardia Abnormal blistering of the skin Full cheeks Growth delay High palate Wide nose Vertebral compression fractures Micrognathia Kyphosis Osteoporosis Long face Kyphoscoliosis Osteopenia Anteverted nares Downslanted palpebral fissures Thickened skin Cryptorchidism Wide nasal bridge Osteolysis Generalized osteoporosis Abnormality of the dentition Sleep apnea Hoarse voice Macroglossia Joint hypermobility Thin upper lip vermilion Prominent forehead Inguinal hernia Long philtrum Peripheral neuropathy Scoliosis Generalized hypotonia Global developmental delay Hepatomegaly Hypermelanotic macule Irritability Abnormality of reproductive system physiology Telecanthus Recurrent infections Hyperhidrosis Carcinoma Prominent nasal bridge Cortical diaphyseal thickening of the upper limbs Biconcave vertebral bodies Platybasia Generalized hypertrichosis Wrist flexion contracture Delayed closure of the anterior fontanelle Short nail Broad metatarsal Absent frontal sinuses Antinuclear antibody positivity Ankylosis Ankle contracture Hip contracture Arthropathy Camptodactyly of toe Contractures of the large joints Large earlobe Premature loss of teeth Pathologic fracture Vertebral fusion Carpal osteolysis Dislocated radial head Proportionate short stature Metatarsal osteolysis Metacarpal osteolysis Protrusio acetabuli Radial bowing Severe generalized osteoporosis Vocal cord paralysis Finger swelling C1-C2 subluxation Abnormality of the thyroid gland Osteolytic defects of the phalanges of the hand Narrow nasal bridge Abnormality of the thorax Abnormality of the ear Pes cavus Serpentine fibula Crowded carpal bones Hypothyroidism Tall lumbar vertebral bodies Proptosis Brachycephaly Elongated sella turcica Arthritis Gait disturbance Brachydactyly Flexion contracture Cataract Broad chin Overfolding of the superior helices Horizontal eyebrow Pes planus Corneal opacity Metatarsus adductus Decreased body weight Metaphyseal widening Large sella turcica Knee flexion contracture Basilar impression Gingival overgrowth Cervical instability Basilar invagination Foot acroosteolysis Bulbous nose Subcutaneous nodule Bilateral vocal cord paralysis Split hand Interphalangeal joint contracture of finger Hypoplasia of the maxilla Delayed eruption of teeth Small hand Delayed cranial suture closure Wormian bones Narrow palpebral fissure Conductive hearing impairment Patent ductus arteriosus Narrow mouth Abnormal toenail morphology Skeletal dysplasia Broad foot Umbilical hernia Joint laxity Dysuria Protruding ear Abnormal cardiac septum morphology Growth hormone excess Joint swelling Palpebral edema Genu valgum Thick eyebrow Abnormality of the endocrine system Neoplasm of the endocrine system Recurrent fractures Long penis Macrodactyly Dysmenorrhea Pituitary prolactin cell adenoma Deep plantar creases Galactorrhea Hypersomnia Paraganglioma Pheochromocytoma Deep palmar crease Failure to thrive Short neck Hydrocephalus Renal insufficiency Anterior hypopituitarism Hernia Hypospadias Renal cyst Spinal canal stenosis Broad jaw Sclerotic cranial sutures Abnormal vertebral morphology Broad forehead Hypertrophic cardiomyopathy Macrotia Mandibular prognathia Increased bone mineral density Fatigue Distal tapering of metatarsals Long eyelashes Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Widened metacarpal shaft Interphalangeal joint erosions Osteolysis involving tarsal bones Thin metacarpal cortices Tapered finger Migraine Pain insensitivity Cerebral palsy Generalized hyperpigmentation Impotence Intestinal malrotation Dental malocclusion Large hands Acne Growth abnormality Widely spaced teeth Thick lower lip vermilion Acanthosis nigricans Abnormality of the fingernails Tall stature Mitral regurgitation Osteoarthritis Bowing of the long bones Abnormality of the face Oval face Ataxia Inverted nipples Glomerulonephritis Membranoproliferative glomerulonephritis Lymphocytosis Progeroid facial appearance Microscopic hematuria Abnormality of lipid metabolism Glomerulopathy Lipoatrophy Premature ovarian insufficiency Loss of truncal subcutaneous adipose tissue Lipodystrophy Polycystic ovaries Insulin resistance Hypertriglyceridemia Nephrotic syndrome Nephropathy Hematuria Decreased serum complement C3 Progressive loss of facial adipose tissue Autoimmunity Metabolic acidosis Paranoia Auditory hallucinations Ileus Prolonged neonatal jaundice Orthostatic hypotension Hyponatremia Hypotension Hemolytic anemia Loss of subcutaneous adipose tissue from upper limbs Pruritus Myalgia Jaundice Acidosis Areflexia Arrhythmia Behavioral abnormality Anemia Hepatic steatosis Proteinuria Congenital hemolytic anemia Abnormal eyebrow morphology Weight loss Olfactory lobe agenesis Abnormal macular morphology White eyebrow White eyelashes White forelock Abnormality of the nose Hypopigmentation of hair Increased body weight Premature graying of hair Intestinal obstruction Abnormality of vision Abnormal intestine morphology Abnormality of retinal pigmentation Aganglionic megacolon Underdeveloped nasal alae Abnormality of the eye Palpitations Hypokalemia Alopecia Abnormality of urine homeostasis Immunodeficiency Myopathy Increased serum androstenedione Abnormal serum dehydroepiandrosterone level Elevated serum 11-deoxycortisol Paradoxical increased cortisol secretion on dexamethasone suppression test Increased serum estradiol Increased circulating androgen level Striae distensae Panic attack Increased urinary cortisol level Lung adenocarcinoma Adrenocortical carcinoma Pollakisuria Adrenocorticotropic hormone deficiency Hyperaldosteronism Increased circulating cortisol level Delirium Compensated hemolytic anemia Delayed ability to walk Delayed speech and language development Gastroesophageal reflux Micropenis Posteriorly rotated ears Cerebellar hypoplasia Cerebellar atrophy Dysphagia Dysarthria Strabismus Deeply set eye Microcephaly Expressive language delay Spinal deformities Long hallux Prolonged prothrombin time Abnormality of the mitochondrion Periorbital fullness Prolonged partial thromboplastin time High forehead Neonatal hypotonia Dysostosis multiplex Apraxia Myopathic facies Overfolded helix Deep philtrum Poor head control Abnormality of the genitourinary system Short chin Stereotypy Decreased fetal movement Muscular hypotonia of the trunk Delayed myelination Vesicoureteral reflux Broad nasal tip Triangular face Downturned corners of mouth Dysmetria Astigmatism Neurological speech impairment Upper airway obstruction Episodic abdominal pain Respiratory paralysis Hypopigmentation of the skin Restlessness Milia Agitation Chronic kidney disease Hypopigmented skin patches Aspiration Tetraplegia Scarring Neoplasm of the liver Abnormality of the kidney Clinodactyly Abnormality of the skeletal system Fever Nystagmus Acute episodes of neuropathic symptoms Red urine Abdominal colic Hepatocellular carcinoma Motor polyneuropathy Protuberant abdomen High, narrow palate Hypoplastic nipples Thoracic hypoplasia 2-3 toe syndactyly Cholelithiasis Hyperkinesis Low posterior hairline Memory impairment Smooth philtrum Dark urine Attention deficit hyperactivity disorder Developmental regression Hyperactivity Intellectual disability, mild Macrocephaly Cognitive impairment Porphyrinuria Premature adrenarche Cheyne-Stokes respiration



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