Brachydactyly, and Subcutaneous nodule

Diseases related with Brachydactyly and Subcutaneous nodule

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


Top matches:

Medium 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

Medium match INSULIN-RESISTANCE SYNDROME TYPE A


Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.

INSULIN-RESISTANCE SYNDROME TYPE A Is also known as diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|iran, type a

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Brachydactyly
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INSULIN-RESISTANCE SYNDROME TYPE A

Medium match PROGRESSIVE OSSEOUS HETEROPLASIA


Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.

PROGRESSIVE OSSEOUS HETEROPLASIA Is also known as familial ectopic ossification|ectopic ossification, familial|poh|osteoma cutis

Related symptoms:

  • Scoliosis
  • Growth delay
  • Neoplasm
  • Pain
  • Brachydactyly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROGRESSIVE OSSEOUS HETEROPLASIA

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Other less relevant matches:

Medium match INFANTILE SYSTEMIC HYALINOSIS


Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Medium 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

Medium match PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A


Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ resistance to parathyroid hormone (PTH ). In addition to PTH resistance, PHP Ia is characterized by resistance to other hormones, including thyroid-stimulating hormone (TSH; see TSHB, {188540}) and gonadotropins. PHP Ia is associated with a constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation (Mantovani and Spada, 2006).In contrast, pseudopseudohypoparathyroidism (PPHP ) is characterized by the physical findings of AHO but without hormone resistance (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006).PHP1A occurs only after maternal inheritance of the molecular defect, whereas PPHP occurs only after paternal inheritance of the molecular defect (Davies and Hughes, 1993; Wilson et al., 1994). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele. See INHERITANCE and PATHOGENESIS sections.

PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A Is also known as albright hereditary osteodystrophy with multiple hormone resistance|php ia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A

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 FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Low match FIBRODYSPLASIA OSSIFICANS PROGRESSIVA


Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Is also known as stone man syndrome|fop|myositis ossificans progressiva

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

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

Top 5 symptoms//phenotypes associated to Brachydactyly and Subcutaneous nodule

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ectopic ossification Neoplasm Cognitive impairment Short metacarpal Abnormality of the skeletal system Cataract Osteoporosis Delayed eruption of teeth Short metatarsal Hypothyroidism Muscle cramps Hypoplasia of dental enamel Pain Pseudohypoparathyroidism Constrictive median neuropathy Growth delay Calcinosis Ankylosis Macule Hearing impairment Thickened skin Low-set ears Hypermelanotic macule Nystagmus Papule Clinodactyly Scarring Short neck Osteoma cutis Kyphosis Basal ganglia calcification Global developmental delay Hypertelorism Abnormality of the dentition Intellectual disability, mild Immunodeficiency Failure to thrive Micrognathia

Rare Symptoms - Less than 30% cases


Flexion contracture Hypotrichosis Telangiectasia of the skin Myoclonic spasms Abnormality of the thyroid gland Frontal bossing Hydrocephalus Narrow nasal bridge Metaphyseal widening Split hand Telangiectasia Interphalangeal joint contracture of finger Overgrowth Hypoplasia of the maxilla Corneal opacity Diarrhea Strabismus Oligomenorrhea Conjunctivitis Low urinary cyclic AMP response to PTH administration Prolonged QT interval Short finger Polyphagia Short fifth metatarsal Short 3rd metacarpal Abdominal symptom Hypergonadotropic hypogonadism Hyperphosphatemia Short 4th metacarpal Elevated circulating parathyroid hormone level Short 5th metacarpal Laryngeal dystonia Hypocalcemic tetany Hypocalcemic seizures Hypocalcemia Increased bone mineral density Sensorineural hearing impairment Anxiety Depressed nasal bridge Gingival overgrowth Depressivity Hyporeflexia Hypogonadism Dyspnea Pituitary resistance to thyroid hormone Irritability Choroid plexus calcification Paresthesia Confusion Full cheeks Chest pain Round face Growth hormone deficiency Broad distal phalanx of the thumb Abnormality of dental morphology Prolactin deficiency Chronic diarrhea Macrocephaly Limitation of joint mobility Alopecia Generalized hypertrichosis Prolactin excess Polycystic ovaries Sarcoma Melanocytic nevus Hypertrichosis Macroglossia Abnormality of the musculature Hirsutism Ectopic ossification in muscle tissue Papilloma Diabetes mellitus Hamartoma Hand polydactyly Osteopenia Fever Pes planus Coarse facial features Camptodactyly of finger Brittle hair Ventricular septal defect Blindness Syndactyly Microphthalmia Abnormality of cardiovascular system morphology Hernia Patent ductus arteriosus Pseudopapilledema Dermal atrophy Optic atrophy Abnormal heart morphology Ectropion Inguinal hernia Progressive macrocephaly Reduced number of teeth Recurrent skin infections Dysphagia Mucosal telangiectasiae Intrauterine growth retardation Lobular carcinoma in situ Enlarged cerebellum Trichilemmoma Dysplastic gangliocytoma of the cerebellum Conjunctival hamartoma Fibroadenoma of the breast Ductal carcinoma in situ Merkel cell skin cancer Multiple trichilemmomata Oligodontia Ectopia lentis Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Microcephaly Cleft palate Cryptorchidism Acrokeratosis Ptosis Cutis marmorata telangiectatica congenita Arnold-Chiari malformation Horseshoe kidney Agenesis of corpus callosum Hydronephrosis Weight loss Hypodontia Iris coloboma Reduced visual acuity Abnormality of skin pigmentation Cleft upper lip Gastroesophageal reflux Umbilical hernia Facial asymmetry Abnormality of the foot Toe syndactyly Broad nasal tip Joint laxity Pruritus Nail dystrophy Cleft lip Camptodactyly Abnormality of the pinna Microtia Cough Abnormal cardiac septum morphology Coloboma Sparse hair Polydactyly Intestinal malrotation Renal hypoplasia/aplasia Hoarse voice Spina bifida occulta Abnormality of dental enamel Multicystic kidney dysplasia Erythema Congenital hip dislocation Pointed chin Hyperhidrosis Increased body weight Abnormality of the nail Short ribs Spina bifida Ectodermal dysplasia Short phalanx of finger Abnormality of epiphysis morphology Omphalocele Thin skin Renal hypoplasia Congenital diaphragmatic hernia Postaxial hand polydactyly Abnormality of the skin Nail dysplasia Dental malocclusion Abdominal pain Finger syndactyly Ectrodactyly Chorioretinal coloboma Midclavicular aplasia Myocardial infarction Respiratory tract infection Conductive hearing impairment Difficulty walking Respiratory failure Glaucoma Pneumonia Clinodactyly of the 5th finger Congestive heart failure Respiratory insufficiency Anemia Midclavicular hypoplasia Abnormal vertebral morphology Giant cell tumor of bone Apocrine hidrocystoma Cholesteatoma Linear hyperpigmentation Ectopia cordis Bifid ureter Abnormal adipose tissue morphology Abnormality of the pulmonary vasculature Nonproductive cough Osteopathia striata Cleft ala nasi Abnormality of the mediastinum Short thumb Aspiration Caudal appendage Low-grade fever Cerebral calcification Aplasia/Hypoplasia of the phalanges of the hallux Abnormality of the first metatarsal bone Progressive cervical vertebral spine fusion Ectopic ossification in tendon tissue Ectopic ossification in ligament tissue Small cervical vertebral bodies Fibrosarcoma Osteochondroma Synostosis of joints Soft tissue sarcoma Overbite Finger clinodactyly Stiff neck Broad femoral neck Short 1st metacarpal Short hallux Myositis Broad neck Exostoses Alopecia of scalp Spinal rigidity Hallux valgus Back pain Widely spaced teeth Abnormal palmar dermatoglyphics Ridged fingernail Stridor Endometrial carcinoma Truncus arteriosus Myelomeningocele Stenosis of the external auditory canal Aplasia/Hypoplasia of the lungs Hiatus hernia Split foot Hypoplasia of the iris Foot polydactyly Aniridia Short clavicles Oligodactyly Facial cleft Acute hepatic failure Aplasia cutis congenita Hypoplastic nipples Anteriorly placed anus Abnormality of digit Aplasia/Hypoplasia of the skin Vertebral fusion Colitis Mixed hearing impairment Supernumerary nipple Open bite Mild short stature Anophthalmia Diastasis recti Duodenal atresia Absence of the sacrum Abnormality of hair texture Patchy alopecia Upper limb asymmetry Reticular hyperpigmentation Absent fingernail Foot oligodactyly Abnormality of the middle ear Rough bone trabeculation Absent toenail Clitoral hypoplasia Inspiratory stridor Total anomalous pulmonary venous return Abnormal cornea morphology Hypoplastic pelvis Hand oligodactyly Ureteral duplication Bifid nose Skin nodule Anomalous pulmonary venous return Hypoplasia of teeth Cholangitis Labial hypoplasia Abnormality of the larynx Verrucae Ulcerative colitis Lower limb asymmetry Colorectal polyposis Neoplasm of the skin Follicular thyroid carcinoma Arthralgia Hip contracture Arthropathy Abnormality of the ear Abnormality of the thorax Osteolysis Knee flexion contracture Decreased body weight Small hand Bulbous nose Arthritis Kyphoscoliosis Antinuclear antibody positivity Proptosis Brachycephaly Pes cavus Gait disturbance Aplasia/Hypoplasia of the thymus Abnormality of the adrenal glands Abnormality of the gastrointestinal tract Osteomalacia Steatorrhea Urticaria Ankle contracture Vertebral compression fractures Recurrent bacterial infections Thin metacarpal cortices Hypoglycemia Hypertension Sclerotic cranial sutures Distal tapering of metatarsals Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Widened metacarpal shaft Interphalangeal joint erosions Osteolysis involving tarsal bones Carpal osteolysis Generalized osteoporosis Metatarsal osteolysis Metacarpal osteolysis Severe generalized osteoporosis Finger swelling C1-C2 subluxation Contractures of the large joints Protrusio acetabuli Broad metatarsal Camptodactyly of toe Wrist flexion contracture Delayed closure of the anterior fontanelle Increased susceptibility to fractures Skin ulcer Short toe Hyperkeratosis Accelerated skeletal maturation Generalized hirsutism Insulin resistance Epidermal acanthosis Type II diabetes mellitus Narrow forehead Delayed puberty Carious teeth Macrotia Mandibular prognathia Lymphadenitis Hyperinsulinemia Periorbital edema Recurrent viral infections Episodic fever Combined immunodeficiency Vasculitis Inflammatory abnormality of the skin Bifid uvula Everted lower lip vermilion Autoimmunity Thrombocytopenia Edema Acanthosis nigricans Increased number of teeth Hyperpigmentation of the skin Abnormality of the parathyroid gland Lymphedema Recurrent fractures Short palm Micromelia Malabsorption Joint stiffness Severe short stature Feeding difficulties Muscular hypotonia Osteoma Numerous nevi Generalized hyperpigmentation Ectopic calcification Celiac disease Bone pain Osteoarthritis Nevus Skin rash Menstrual irregularities Macroorchidism Ketoacidosis Growth hormone excess Insulin-resistant diabetes mellitus Choreoathetosis Reduced bone mineral density Varicocele Hyperthyroidism Skin tags Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Hashimoto thyroiditis Renal cell carcinoma Hodgkin lymphoma Thyroiditis Ovarian neoplasm Acute myeloid leukemia Meningioma Multiple cafe-au-lait spots Cellulitis Cystic hygroma Multiple lipomas Cutis marmorata Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Breast carcinoma Megalencephaly Hydrocele testis Hypopigmented skin patches Generalized hyperkeratosis Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Fibroma Arteriovenous malformation Hamartomatous polyposis Enlarged polycystic ovaries Cavernous hemangioma Long penis Cellular immunodeficiency Bone cyst Intestinal polyposis Ovarian cyst Astrocytoma Abnormality of the uterus Furrowed tongue Melanoma Increased intracranial pressure Thickened calvaria Generalized hypotonia Atrial septal defect Tremor Downslanted palpebral fissures Skeletal muscle atrophy Myopia Motor delay Delayed speech and language development High palate Muscle weakness Ataxia Broad 1st metacarpal Headache Hyperostosis frontalis interna Subcutaneous calcification Elevated calcitonin Abnormal platelet function Band keratopathy Shortening of all distal phalanges of the fingers Parathyroid hyperplasia Tetany Spinal cord compression Exocrine pancreatic insufficiency Congenital hypothyroidism Myopathy Dilatation Hemangioma Abnormal cerebellum morphology Drooling Cranial nerve paralysis Lymphopenia Gynecomastia Cafe-au-lait spot Exotropia Broad thumb Intention tremor Decreased antibody level in blood Lymphoma Palmoplantar keratoderma Recurrent infections Polymicrogyria Joint hypermobility Nausea and vomiting Leukemia Abnormality of the kidney Intellectual disability, moderate Carcinoma Proximal muscle weakness Narrow mouth Autism Pectus excavatum Autoimmune antibody positivity



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