Brachydactyly, and Autoimmunity

Diseases related with Brachydactyly and Autoimmunity

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


Top matches:

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2


Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Low match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

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

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Other less relevant matches:

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE


Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE Is also known as sedaghatian chondrodysplasia|metaphyseal chondrodysplasia, congenital lethal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1B


Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

PSEUDOHYPOPARATHYROIDISM TYPE 1B Is also known as php ib

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1B

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1C


Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).

PSEUDOHYPOPARATHYROIDISM TYPE 1C Is also known as php ic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1C

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1A


Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).

PSEUDOHYPOPARATHYROIDISM TYPE 1A Is also known as albright hereditary osteodystrophy-php syndrome ia|aho-php syndrome ia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1A

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match KABUKI SYNDROME 1; KABUK1


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

Low match CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1


CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Is also known as chondrodysplasia punctata, brachytelephalangic|cpxr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

Top 5 symptoms//phenotypes associated to Brachydactyly and Autoimmunity

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Autoimmunity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Hearing impairment Scoliosis Failure to thrive Cognitive impairment Hyporeflexia Depressivity Obesity Hypothyroidism Hypocalcemia Anxiety Delayed eruption of teeth Short metacarpal Growth hormone deficiency Generalized hypotonia Short neck Immunodeficiency Hyperphosphatemia Nystagmus Pituitary resistance to thyroid hormone Kyphosis Pes planus Irritability Paresthesia Muscle cramps Full cheeks Chest pain Round face Hypoplasia of dental enamel Low urinary cyclic AMP response to PTH administration Micrognathia Abdominal symptom Increased bone mineral density Hypocalcemic tetany Myoclonic spasms Hypocalcemic seizures Conjunctivitis Pseudohypoparathyroidism Laryngeal dystonia Autoimmune antibody positivity Elevated circulating parathyroid hormone level Calcinosis Atrial septal defect Prolonged QT interval Dyspnea Recurrent infections Abnormality of the skeletal system High palate Abnormal facial shape Subcutaneous nodule

Rare Symptoms - Less than 30% cases


Short nasal septum Short 3rd metacarpal Joint hypermobility Respiratory tract infection Polymicrogyria Vasculitis Anemia Strabismus Osteoma cutis Choroid plexus calcification Broad distal phalanx of the thumb Short fifth metatarsal Abnormality of the thyroid gland Ectopic ossification Posteriorly rotated ears Prolactin deficiency Decreased antibody level in blood Constrictive median neuropathy Short 4th metacarpal Oligomenorrhea Basal ganglia calcification Polyphagia Short metatarsal Hypergonadotropic hypogonadism Cerebral calcification Confusion Hypogonadism Short 5th metacarpal Clinodactyly Hypoplasia of the maxilla Frontal bossing Microcephaly Thyroiditis Dilatation Systemic lupus erythematosus Intellectual disability, mild Diarrhea Hashimoto thyroiditis Scaphocephaly Hypertelorism Lymphopenia Inflammatory abnormality of the skin Poor suck Intellectual disability, moderate Abnormality of the kidney Sensorineural hearing impairment Ataxia Hirsutism Hemolytic anemia Reduced bone mineral density Short phalanx of finger Combined immunodeficiency Cafe-au-lait spot Abnormality of the dentition Muscular hypotonia Lymphoma Myopia Renal insufficiency Osteoporosis Pseudopapilledema Neoplasm of the thyroid gland Angioid streaks of the fundus Transitional cell carcinoma of the bladder Endometrial carcinoma Abnormality of the penis Follicular thyroid carcinoma Varicocele Acrokeratosis Adenoma sebaceum Thyroid adenoma Intestinal polyp Progressive macrocephaly Ovarian carcinoma Mucosal telangiectasiae Colonic diverticula Subcutaneous lipoma Colorectal polyposis Long penis Decreased proportion of CD4-positive T cells Multiple lipomas Hodgkin lymphoma Ovarian neoplasm Hyperthyroidism Hamartoma Acute myeloid leukemia Multiple cafe-au-lait spots Cellulitis Cystic hygroma Macule Lipoma Cutis marmorata Melanocytic nevus Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Breast carcinoma Renal cell carcinoma Abnormality of the vasculature Neoplasm of the central nervous system Intestinal polyposis Generalized hyperkeratosis Fibroma Hamartomatous polyposis Papilloma Enlarged polycystic ovaries Cavernous hemangioma Cutis marmorata telangiectatica congenita Cellular immunodeficiency Bone cyst Ovarian cyst Papilledema Astrocytoma Abnormality of the uterus Furrowed tongue Arteriovenous malformation Hydrocele testis Meningioma Megalencephaly Skin tags Prolactin excess Fibroadenoma of the breast Severe short stature Enlarged cerebellum Autoimmune thrombocytopenia Broad philtrum Small face Cholangitis Optic nerve coloboma Mitral stenosis Retinal coloboma Short 5th finger Depressed nasal tip Short columella Patellar dislocation Vitiligo Overweight Anal stenosis IgA deficiency Anterior plagiocephaly Congenital hypothyroidism Autoimmune hemolytic anemia Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Bundle branch block Hydroureter Preauricular pit Bilateral cryptorchidism Cupped ear Trichorrhexis nodosa Recurrent ear infections Brittle hair Premature thelarche Vitamin K deficiency Epiphyseal stippling Abnormality of the vertebral column Anosmia Short distal phalanx of finger Ichthyosis Short nose Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Eversion of lateral third of lower eyelids Prominent eyelashes Ureteropelvic junction obstruction Liver abscess Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Anorectal anomaly Common atrium Vertebral clefting Epibulbar dermoid Abnormality of the middle ear Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Bronchomalacia Diaphragmatic eventration Precocious puberty Failure to thrive in infancy Trichilemmoma Hypospadias Postnatal growth retardation Feeding difficulties in infancy Joint laxity Hydronephrosis Hypoglycemia Jaundice Macrotia Micropenis Hypopigmented skin patches Pneumonia Abnormal heart morphology Visual loss Patent ductus arteriosus Hernia Protruding ear Ventricular septal defect Wide nasal bridge Epicanthus Feeding difficulties Ptosis Cryptorchidism Cleft palate Growth delay Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Abnormality of the pinna Paralysis Abnormality of the urinary system Blue sclerae Abnormal dermatoglyphics Purpura Hyperbilirubinemia Horseshoe kidney Congenital hip dislocation Increased body weight Sparse and thin eyebrow Abnormal vertebral morphology Long eyelashes Renal dysplasia Heterotopia Recurrent otitis media Small nail Coarctation of aorta Coloboma Congenital diaphragmatic hernia Microdontia Otitis media Dental malocclusion Prominent nose Intestinal malrotation Hypodontia Single transverse palmar crease Highly arched eyebrow Wide nose Astigmatism Anal atresia Malabsorption Abnormal cardiac septum morphology Melanoma Hypertension Increased intracranial pressure Ankle contracture Broad metatarsal Camptodactyly of toe Generalized hypertrichosis Wrist flexion contracture Delayed closure of the anterior fontanelle Generalized osteoporosis Vertebral compression fractures Antinuclear antibody positivity Ankylosis Hip contracture Contractures of the large joints Arthropathy Narrow nasal bridge Abnormality of the ear Hypermelanotic macule Abnormality of the thorax Metaphyseal widening Osteolysis Knee flexion contracture Gingival overgrowth Thickened skin Protrusio acetabuli C1-C2 subluxation Split hand Distal tapering of metatarsals Platyspondyly Apnea Respiratory failure Agenesis of corpus callosum Cerebellar hypoplasia Delayed skeletal maturation Arrhythmia Respiratory insufficiency Talipes equinovarus Sclerotic cranial sutures Thin metatarsal cortices Finger swelling Peripheral opacification of the cornea Ankylosis of feet small joints Widened metacarpal shaft Interphalangeal joint erosions Osteolysis involving tarsal bones Thin metacarpal cortices Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Severe generalized osteoporosis Decreased body weight Hypertrichosis Short palm Recurrent respiratory infections Eczema Sensory impairment Asthma Neutropenia Erythema Abnormality of the nervous system Conductive hearing impairment Gastroesophageal reflux Myoclonus Dysarthria Narrow palpebral fissure Lymphadenitis Periorbital edema Recurrent viral infections Episodic fever Bifid uvula Everted lower lip vermilion Scarring Thrombocytopenia Edema Fever Bronchiectasis Leukopenia Interphalangeal joint contracture of finger Diabetes mellitus Small hand Bulbous nose Corneal opacity Arthritis Arthralgia Coarse facial features Osteopenia Kyphoscoliosis Proptosis Brachycephaly Pes cavus Recurrent skin infections Gait disturbance Flexion contracture Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Atopic dermatitis Glomerulonephritis Narrow chest Limb undergrowth Hemangioma Hyperostosis frontalis interna Macrocephaly Skeletal muscle atrophy Motor delay Delayed speech and language development Low-set ears Pain Muscle weakness Neoplasm Broad 1st metacarpal Elevated calcitonin Tremor Abnormal platelet function Band keratopathy Spinal cord compression Thickened calvaria Involuntary movements Choreoathetosis Cortical subperiosteal resorption of humeral metaphyses Increased bone density with cystic changes Diaphyseal sclerosis Ectopic calcification Downslanted palpebral fissures Hydrocephalus Hyperparathyroidism Macroglossia Drooling Cranial nerve paralysis Neoplasm of the skin Gynecomastia Exotropia Chronic diarrhea Telangiectasia Broad thumb Intention tremor Overgrowth Abnormal cerebellum morphology Myopathy Palmoplantar keratoderma Nausea and vomiting Papule Leukemia Carcinoma Proximal muscle weakness Narrow mouth Autism Pectus excavatum Headache Tetany Dyskinesia Abnormality of the ribs Abnormality of neuronal migration Cone-shaped epiphyses of the phalanges of the hand Cardiorespiratory arrest Heart block Turricephaly Metaphyseal dysplasia Disproportionate short stature Short finger Cortical gyral simplification Thoracic hypoplasia Metaphyseal irregularity Flat acetabular roof Cone-shaped epiphysis Redundant skin Atrioventricular block Short long bone Lissencephaly Accelerated skeletal maturation Short ribs Short toe Rhizomelia Pachygyria Delayed epiphyseal ossification Hypoplastic iliac wing 11 thoracic vertebrae Long fibula Horizontal inferior border of scapula Irregular tarsal bones Widened sacrosciatic notch Focal lissencephaly Iliac crest serration Cone-shaped metacarpal epiphyses Rhizomelic arm shortening Abnormality of the scapula Large posterior fontanelle Myocardial necrosis Pulmonary hemorrhage Myocarditis Cupped ribs Third degree atrioventricular block Narrow greater sacrosciatic notches Coronal cleft vertebrae Porencephalic cyst Metaphyseal cupping Metaphyseal chondrodysplasia Spondylometaphyseal dysplasia Flared iliac wings 11 pairs of ribs Maternal autoimmune disease



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