Autoimmunity, and Short metacarpal

Diseases related with Autoimmunity and Short metacarpal

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

Top matches:

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

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

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

Other less relevant matches:

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

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

Related symptoms:

  • Short stature
  • Brachydactyly
  • Delayed eruption of teeth
  • Short metacarpal
  • Oligodontia


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE E2; BDE2

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

METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH Is also known as cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency|chhv|cartilage-hair hypoplasia variant, skeletal manifestations only

Related symptoms:

  • Immunodeficiency
  • Severe short stature
  • Joint laxity
  • Hypotrichosis
  • Micromelia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH

Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE Is also known as spondylodysplasia and premature pubarche|semd, pakistani type|spondyloepimetaphyseal dysplasia, pakistani type

Related symptoms:

  • Short stature
  • Scoliosis
  • Brachydactyly
  • Gait disturbance
  • Kyphoscoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE

Top 5 symptoms//phenotypes associated to Autoimmunity and Short metacarpal

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Cataract Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Delayed eruption of teeth Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hyperphosphatemia Intellectual disability Hypocalcemia Seizures Short neck Low urinary cyclic AMP response to PTH administration Round face Laryngeal dystonia Autoimmune antibody positivity Elevated circulating parathyroid hormone level Calcinosis Prolonged QT interval Conjunctivitis Increased bone mineral density Hypoplasia of dental enamel Growth hormone deficiency Chest pain Myoclonic spasms Full cheeks Muscle cramps Paresthesia Irritability Anxiety Dyspnea Hyporeflexia Depressivity Obesity Nystagmus Hypocalcemic seizures Pseudohypoparathyroidism Hypocalcemic tetany Pituitary resistance to thyroid hormone Short metatarsal Abdominal symptom

Rare Symptoms - Less than 30% cases

Short 4th metacarpal Choroid plexus calcification Abnormality of the vertebral column Cognitive impairment Broad distal phalanx of the thumb Short fifth metatarsal Short 3rd metacarpal Ectopic ossification Prolactin deficiency Short 5th metacarpal Gait disturbance Basal ganglia calcification Oligomenorrhea Polyphagia Hypergonadotropic hypogonadism Cerebral calcification Kyphoscoliosis Confusion Reduced bone mineral density Hypothyroidism Hypogonadism Osteoporosis Hirsutism Osteoma cutis Scoliosis Constrictive median neuropathy Platyspondyly Delayed epiphyseal ossification Cone-shaped epiphyses of the phalanges of the hand Systemic lupus erythematosus Short phalanx of finger Metaphyseal irregularity Metaphyseal dysplasia Short long bone Rhizomelic arm shortening Generalized hypertrichosis Camptodactyly of toe Broad metatarsal Protrusio acetabuli Contractures of the large joints C1-C2 subluxation Severe generalized osteoporosis Finger swelling Metacarpal osteolysis Metatarsal osteolysis Carpal osteolysis Thin metacarpal cortices Osteolysis involving tarsal bones Interphalangeal joint erosions Widened metacarpal shaft Ankylosis of feet small joints Wrist flexion contracture Delayed closure of the anterior fontanelle Generalized osteoporosis Osteolysis Small hand Hypoplasia of the maxilla Interphalangeal joint contracture of finger Hypertrichosis Split hand Subcutaneous nodule Decreased body weight Thickened skin Gingival overgrowth Knee flexion contracture Metaphyseal widening Vertebral compression fractures Abnormality of the thorax Hypermelanotic macule Abnormality of the ear Abnormality of the thyroid gland Narrow nasal bridge Arthropathy Hip contracture Ankle contracture Ankylosis Antinuclear antibody positivity Peripheral opacification of the cornea Sclerotic cranial sutures Thin metatarsal cortices Skeletal dysplasia Genu varum Abnormality of the immune system Metaphyseal cupping of metacarpals Anemia Thrombocytopenia Leukemia Hemolytic anemia Leukopenia Abnormal erythrocyte morphology Amenorrhea Abnormality of the hair Acne Bowing of the legs Short femoral neck Secondary amenorrhea Irregular vertebral endplates Spondyloepimetaphyseal dysplasia Enlarged joints Lower limb undergrowth Lumbar scoliosis Abnormality of pelvic girdle bone morphology Micromelia Distal tapering of metatarsals Ichthyosis Bulbous nose Oligodontia Global developmental delay Hearing impairment Microcephaly Failure to thrive Abnormal facial shape Short nose Talipes equinovarus Short distal phalanx of finger Hypotrichosis Anosmia Muscular hypotonia Epiphyseal stippling Vitamin K deficiency Short nasal septum Maternal autoimmune disease Immunodeficiency Severe short stature Joint laxity Respiratory insufficiency Coarse facial features Corneal opacity Short finger Myocarditis Hypoplastic iliac wing Flat acetabular roof Cardiorespiratory arrest Heart block Turricephaly Hyperparathyroidism Disproportionate short stature Tetany Flared iliac wings Cortical gyral simplification Thoracic hypoplasia Ectopic calcification Abnormality of neuronal migration Cone-shaped epiphysis Diaphyseal sclerosis Redundant skin Poor suck Increased bone density with cystic changes 11 pairs of ribs Spondylometaphyseal dysplasia Abnormality of the skeletal system Long fibula Iliac crest serration Focal lissencephaly Widened sacrosciatic notch Irregular tarsal bones Horizontal inferior border of scapula 11 thoracic vertebrae Abnormality of the scapula Large posterior fontanelle Myocardial necrosis Pulmonary hemorrhage Dyskinesia Abnormality of the dentition Renal insufficiency Cupped ribs Third degree atrioventricular block Narrow greater sacrosciatic notches Coronal cleft vertebrae Porencephalic cyst Metaphyseal cupping Metaphyseal chondrodysplasia Cortical subperiosteal resorption of humeral metaphyses Atrioventricular block Arthritis Frontal bossing Elevated calcitonin Hyperostosis frontalis interna Broad 1st metacarpal Delayed skeletal maturation Hypertelorism Micrognathia Flexion contracture Arrhythmia Kyphosis Band keratopathy Pes cavus Diabetes mellitus Brachycephaly Proptosis Atrial septal defect Osteopenia Cone-shaped metacarpal epiphyses Arthralgia Pes planus Abnormal platelet function Spinal cord compression Lissencephaly Narrow chest Accelerated skeletal maturation Short ribs Short toe Rhizomelia Pachygyria Abnormality of the ribs Limb undergrowth Generalized hypotonia Short palm Apnea Thickened calvaria Respiratory failure Posteriorly rotated ears Agenesis of corpus callosum Cerebellar hypoplasia Strabismus Sensorineural hearing impairment Hypertension Choreoathetosis Involuntary movements Premature pubarche


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