Autoimmunity, and Sparse and thin eyebrow
Diseases related with Autoimmunity and Sparse and thin eyebrow
In the following list you will find some of the most common rare diseases related to Autoimmunity and Sparse and thin eyebrow that can help you solving undiagnosed cases.
Top matches:
Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.
KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
MENDELIAN
More info about KABUKI SYNDROME 1; KABUK1
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.
WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s
Related symptoms:
- Intellectual disability
- Seizures
- Hearing impairment
- Scoliosis
- Hypertelorism
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about WOODHOUSE-SAKATI SYNDROME
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Other less relevant matches:
Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.
CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome
Related symptoms:
- Seizures
- Neoplasm
- Muscle weakness
- Pain
- Cataract
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about CRONKHITE-CANADA SYNDROME
Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.
MULTIPLE INTESTINAL ATRESIA Is also known as intestinal atresia, multiple|minat|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|fipa|familial intestinal polyatresia syndrome
Related symptoms:
- Growth delay
- Anemia
- Intrauterine growth retardation
- Abnormality of the skeletal system
- Ventricular septal defect
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about MULTIPLE INTESTINAL ATRESIA
Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).
OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia
Related symptoms:
- Failure to thrive
- Anemia
- Hepatomegaly
- Fever
- Edema
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about OMENN SYNDROME
Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011).For a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}. Historical Classification of Pachyonychia CongenitaGorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type.Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (OMIM ) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium.On the basis of a study of 13 patients with PC type 1 or type 2, Terrinoni et al. (2001) concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis.
PACHYONYCHIA CONGENITA 2; PC2 Is also known as pachyonychia congenita, jackson-lawler type, formerly
Related symptoms:
- Hyperhidrosis
- Hyperkeratosis
- Nail dystrophy
- Nail dysplasia
- Sparse scalp hair
SOURCES:
OMIM
MENDELIAN
More info about PACHYONYCHIA CONGENITA 2; PC2
Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS Is also known as keratosis follicularis spinulosa decalvans cum ophiasi
Related symptoms:
- Myopia
- Alopecia
- Hyperkeratosis
- Photophobia
- Scarring
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about KERATOSIS FOLLICULARIS SPINULOSA DECALVANS
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.
NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME Is also known as ihsc|neonatal ichthyosis-sclerosing cholangitis syndrome|ichthyosis-hypotrichosis-sclerosing cholangitis syndrome|ichthyosis-sclerosing cholangitis syndrome|nisch syndrome
Related symptoms:
- Hepatomegaly
- Splenomegaly
- Alopecia
- Jaundice
- Scarring
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME
Top 5 symptoms//phenotypes associated to Autoimmunity and Sparse and thin eyebrow
Symptoms // Phenotype |
% cases |
Alopecia |
Common - Between 50% and 80% cases
|
Diarrhea |
Uncommon - Between 30% and 50% cases
|
Anemia |
Uncommon - Between 30% and 50% cases
|
Hashimoto thyroiditis |
Uncommon - Between 30% and 50% cases
|
Alopecia of scalp |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Autoimmunity and Sparse and thin eyebrow. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Hypotrichosis
Immunodeficiency
Nail dystrophy
Scarring
Hepatomegaly
Scarring alopecia of scalp
Hypoplasia of the thymus
Seizures
Intestinal malrotation
Erythroderma
Nail dysplasia
Sparse hair
Sparse scalp hair
Hyperkeratosis
Hypothyroidism
Ichthyosis
Sparse eyelashes
Splenomegaly
Severe combined immunodeficiency
Ventricular septal defect
Thickened skin
Autoimmune hemolytic anemia
Thyroiditis
Hepatitis
Dry skin
Hearing impairment
Absent eyebrow
Aplasia/Hypoplasia of the eyebrow
Rare Symptoms - Less than 30% cases
Cholangitis
Malabsorption
Hemolytic anemia
Combined immunodeficiency
Keratitis
Dystrophic fingernails
Palmoplantar keratoderma
Autoimmune thrombocytopenia
Sepsis
Edema
Hypodontia
Hematochezia
Abnormal intestine morphology
Papule
Prominent nose
Dental malocclusion
Decreased antibody level in blood
Sensorineural hearing impairment
Sclerosing cholangitis
Increased body weight
Sparse body hair
Purpura
Scaling skin
Hyperbilirubinemia
Intellectual disability
Anal atresia
Protruding ear
Type I diabetes mellitus
Bloody diarrhea
Ectopic calcification
Intestinal atresia
Intellectual disability, mild
Punctate keratitis
Myopia
Psoriasiform dermatitis
High palate
Jejunoileal ulceration
Omphalocele
Abdominal distention
Polyhydramnios
Intrauterine growth retardation
Failure to thrive
Growth delay
Scoliosis
Rectal abscess
Abnormality of the skeletal system
Severe short stature
Congenital cystic adenomatoid malformation of the lung
Pneumonia
Abnormality of the ductus choledochus
Peritoneal abscess
Folliculitis
Corneal dystrophy
Jaundice
Gastrointestinal atresia
Micropenis
Clubbing of fingers
Furrowed tongue
Macrocephaly
Cataract
Dystrophic toenail
Pain
Fatigue
Progressive alopecia
Abdominal pain
Intestinal polyposis
Abnormality of the vasculature
Protein-losing enteropathy
Stomach cancer
Hypoplasia of the fallopian tube
Hamartomatous polyposis
Peripheral edema
Progressive extrapyramidal movement disorder
Patchy alopecia
Decreased serum insulin-like growth factor 1
Hypomagnesemia
Neoplasm
Muscle weakness
Recurrent abscess formation
Paresthesia
Abnormality of skin pigmentation
Tapered finger
Anorexia
Lymphedema
Hyperpigmentation of the skin
Hypocalcemia
Abnormality of the fingernails
Cachexia
Xerostomia
Hypokalemia
Hypoalbuminemia
Clubbing
Hypoplastic toenails
Colon cancer
Weight loss
Generalized hyperpigmentation
Thromboembolism
Vomiting
Glossitis
Lymphadenopathy
Gastrointestinal carcinoma
Palmoplantar hyperhidrosis
Ectropion
Conjunctivitis
Abnormality of the nail
Eczema
Retinal detachment
Photophobia
Steatocystoma multiplex
Epidermoid cyst
Follicular hyperkeratosis
Dry hair
Subungual hyperkeratosis
Oral leukoplakia
Hamartoma
Natal tooth
Palmoplantar hyperkeratosis
Hoarse voice
Hyperhidrosis
Blepharitis
Entropion
Absent eyelashes
Portal hypertension
Absent hair
Hypotrichosis of the scalp
Orthokeratosis
Thick hair
Concave nail
Parakeratosis
Abnormality of blood and blood-forming tissues
Oligodontia
Facial erythema
Acanthosis nigricans
Abnormality of dental enamel
Hypoplasia of dental enamel
Cholestasis
Epidermal acanthosis
Ichthyosis follicularis
Perifollicular fibrosis
Corneal scarring
Cobblestone-like hyperkeratosis
Squamous cell carcinoma
Decreased taste sensation
Fever
Nephrotic syndrome
Lymphoma
Increased thyroid-stimulating hormone level
Pruritus
Skin rash
Hepatosplenomegaly
Thrombocytopenia
Decreased proportion of CD8-positive T cells
Abnormality of the metaphysis
Jejunal atresia
Microcolon
Duodenal stenosis
Duodenal atresia
Abnormality of abdomen morphology
Inflammation of the large intestine
Lymphopenia
Small for gestational age
Inflammatory abnormality of the skin
Chronic diarrhea
Recurrent skin infections
B lymphocytopenia
Pes cavus
Severe B lymphocytopenia
Desquamation of skin soon after birth
Abnormal lymphocyte morphology
Generalized lymphadenopathy
Protracted diarrhea
Recurrent fungal infections
Metaphyseal chondrodysplasia
Short toe
Cellular immunodeficiency
Recurrent viral infections
Hypoproteinemia
Leukocytosis
Eosinophilia
Disproportionate short-limb short stature
Shock
Recurrent bacterial infections
Streak ovary
Abnormality of extrapyramidal motor function
Abnormal spermatogenesis
Otitis media
Heterotopia
Recurrent otitis media
Small nail
Blue sclerae
Coarctation of aorta
Congenital diaphragmatic hernia
Microdontia
Growth hormone deficiency
Long eyelashes
Single transverse palmar crease
Highly arched eyebrow
Hirsutism
Wide nose
Polymicrogyria
Joint hypermobility
Astigmatism
Abnormal cardiac septum morphology
Renal dysplasia
Cafe-au-lait spot
Paralysis
Bilateral cryptorchidism
Transposition of the great arteries
Severe hearing impairment
Long palpebral fissure
Celiac disease
Right bundle branch block
Bundle branch block
Hydroureter
Preauricular pit
Cupped ear
Abnormal vertebral morphology
Precocious puberty
Brittle hair
Failure to thrive in infancy
Poor suck
Abnormality of the urinary system
Abnormal dermatoglyphics
Horseshoe kidney
Congenital hip dislocation
Coloboma
Respiratory tract infection
Congenital hypothyroidism
Cryptorchidism
Kyphosis
Abnormality of the dentition
Atrial septal defect
Wide nasal bridge
Brachydactyly
Epicanthus
Feeding difficulties
Ptosis
Cleft palate
Dilatation
Muscular hypotonia
Abnormal facial shape
Strabismus
Micrognathia
Microcephaly
Generalized hypotonia
Short stature
Global developmental delay
Renal insufficiency
Recurrent infections
Abnormality of the pinna
Pes planus
Postnatal growth retardation
Feeding difficulties in infancy
Abnormality of the kidney
Intellectual disability, moderate
Joint laxity
Anxiety
Hydronephrosis
Hypoglycemia
Macrotia
Hernia
Posteriorly rotated ears
Abnormal heart morphology
Visual loss
Patent ductus arteriosus
Clinodactyly
Hypospadias
Depressivity
Obesity
Cerebellar vermis atrophy
IgA deficiency
Abnormal T-wave
Mental deterioration
Triangular face
Polyneuropathy
Sensory neuropathy
Abnormality of movement
Delayed puberty
Arthrogryposis multiplex congenita
Prominent nasal bridge
Camptodactyly
High forehead
Amenorrhea
Diabetes mellitus
Hypogonadism
Babinski sign
Abnormality of metabolism/homeostasis
Dystonia
Frontal bossing
Gait disturbance
Downslanted palpebral fissures
Decreased testicular size
Dehydration
Hyperreflexia
Premature ovarian insufficiency
Decreased serum estradiol
Decreased serum testosterone level
Anodontia
Heart block
Insulin-resistant diabetes mellitus
Hypoplasia of the uterus
Flat occiput
Sparse eyebrow
Hyperlipidemia
Bilateral sensorineural hearing impairment
Hypogonadotrophic hypogonadism
Hypergonadotropic hypogonadism
Hallucinations
Choreoathetosis
Primary amenorrhea
Myocardial infarction
Fine hair
Psychosis
Dysarthria
Peripheral neuropathy
Anal stenosis
Optic nerve coloboma
Bronchomalacia
Diaphragmatic eventration
Ureteropelvic junction obstruction
Recurrent ear infections
Anterior plagiocephaly
Trichorrhexis nodosa
Broad philtrum
Small face
Mitral stenosis
Prominent fingertip pads
Retinal coloboma
Short 5th finger
Depressed nasal tip
Short columella
Patellar dislocation
Vitiligo
Scaphocephaly
Overweight
Biliary atresia
Recurrent aspiration pneumonia
Delayed speech and language development
Eversion of lateral third of lower eyelids
Cognitive impairment
Hypertelorism
Congenital mitral stenosis
Anoperineal fistula
Nocturnal lagophthalmos
Vertical orbital dystopia
Pilonidal sinus
Short nasal septum
Premature thelarche
Abnormality of the middle ear
Prominent eyelashes
Liver abscess
Single ventricle
Crossed fused renal ectopia
Anorectal anomaly
Common atrium
Vertebral clefting
Epibulbar dermoid
Acute hepatitis
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