Edema, and Brachydactyly

Diseases related with Edema and Brachydactyly

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

Top matches:

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

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

Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2 Is also known as coxpd2|corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly
  • Ventriculomegaly
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2

Other less relevant matches:

Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PARASTREMMATIC DWARFISM

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • Brachydactyly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BOOMERANG DYSPLASIA

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

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 Is also known as short rib-polydactyly syndrome, type v|srps5

Related symptoms:

  • Cleft palate
  • High palate
  • Epicanthus
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Top 5 symptoms//phenotypes associated to Edema and Brachydactyly

Symptoms // Phenotype % cases
Severe short stature Common - Between 50% and 80% cases
Micromelia Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Narrow chest Hydrops fetalis Bowing of the long bones Midface retrusion Skeletal dysplasia Short ribs

Rare Symptoms - Less than 30% cases

Abnormality of the metaphysis Arthritis Frontal bossing Osteopenia Abnormal form of the vertebral bodies Polyhydramnios Accelerated skeletal maturation Cryptorchidism Joint stiffness Cleft palate Recurrent fractures Microdontia Increased susceptibility to fractures Abnormality of tibia morphology Chronic diarrhea Scoliosis Malabsorption High palate Kyphosis Alopecia Lymphedema Dolichocephaly Platyspondyly Flat acetabular roof Subcutaneous nodule Micrognathia Abnormal facial shape Low-set ears Immunodeficiency Severe hydrops fetalis Hypoplastic scapulae Global developmental delay Growth delay Failure to thrive Muscular hypotonia Abnormality of dental morphology Abnormality of the humerus Urticaria Coronal cleft vertebrae Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of femur morphology Steatorrhea Absent radius Telangiectasia of the skin Abnormality of the ulna Polycystic ovaries Abnormality of the musculature Aplasia/Hypoplasia of the lungs Osteoporosis Recurrent bacterial infections Abnormal bone ossification Osteomalacia Poorly ossified vertebrae Hypoplastic nasal septum Hypoplastic iliac body Severe short-limb dwarfism Aplasia/Hypoplasia of the fibula Abnormally ossified vertebrae Coarse facial features Skin ulcer Camptodactyly of finger Short palm Abnormality of the radius Fibular aplasia Feeding difficulties Gingival overgrowth Hyperpigmentation of the skin Thickened skin Syndactyly Abnormality of the gastrointestinal tract Wormian bones Generalized hypotonia Hypertelorism Intrauterine growth retardation Downslanted palpebral fissures Hydrocephalus Proptosis Craniosynostosis Joint hyperflexibility Bruising susceptibility Delayed eruption of teeth Abnormality of the ribs Blue sclerae Abnormality of dental enamel Fused teeth Abnormality of the voice High pitched voice Pathologic fracture Hyperthyroidism Central hypotonia Turricephaly Shallow orbits Coronal craniosynostosis Communicating hydrocephalus Vertebral compression fractures Multiple suture craniosynostosis Crumpled long bones Short uvula Short lingual frenulum Abnormality of the adrenal glands Postaxial polydactyly Aplasia/Hypoplasia of the thymus Epicanthus Respiratory insufficiency Renal insufficiency Hypospadias Polydactyly Cleft lip Sparse hair Oral cleft Hepatic failure Pulmonary hypoplasia Short distal phalanx of finger Renal cyst Bilateral postaxial polydactyly Ascites Nail dysplasia Limb undergrowth Renal hypoplasia Fine hair Short long bone Polycystic kidney dysplasia Aplasia/Hypoplasia of the eyebrow Thoracic hypoplasia Mesomelia Agenesis of permanent teeth Cystic hygroma Thoracic dysplasia Abnormality of the metacarpal bones Ovoid vertebral bodies Omphalocele Lumbar hyperlordosis Redundant skin Hypokinesia Redundant neck skin Pain Depressed nasal bridge Gait disturbance Delayed skeletal maturation Arthralgia Hyperlordosis Waddling gait Osteoarthritis Metabolic acidosis Short thumb Growth abnormality Back pain Mild short stature Broad hallux Limited elbow extension Disproportionate short stature Proportionate short stature Joint swelling Exostoses Increased serum lactate Lactic acidosis Low back pain Combined immunodeficiency Fever Thrombocytopenia Clinodactyly Pes planus Scarring Autoimmunity Everted lower lip vermilion Bifid uvula Inflammatory abnormality of the skin Vasculitis Episodic fever Lethargy Recurrent viral infections Periorbital edema Lymphadenitis Ventriculomegaly Patent ductus arteriosus Agenesis of corpus callosum Acidosis Elevated hepatic transaminase Neonatal hypotonia Feeding difficulties in infancy Small for gestational age Abnormality of the knee Osteochondritis Dissecans Underdeveloped nasal alae Vertebral hypoplasia Spontaneous abortion Abnormality of the fingernails Disproportionate short-limb short stature Metaphyseal irregularity Hypoplastic toenails Fibular hypoplasia Seizures Hypoplastic ilia Diaphyseal thickening Lateral clavicle hook Hypoplastic vertebral bodies Intestinal polyp Anterior rib cupping Advanced ossification of carpal bones Dumbbell-shaped long bone Unossified vertebral bodies Advanced tarsal ossification Increased fibular diameter Snail-like ilia Wide nasal bridge Finger syndactyly Growth hormone deficiency Malar flattening Peripheral edema Decreased hip abduction Nausea and vomiting Limited elbow flexion Quadriceps muscle atrophy Abnormality of skeletal physiology Flexion contracture Vomiting Diarrhea Abdominal pain Hypothyroidism Kyphoscoliosis Nail dystrophy Genu valgum Stiff neck Nausea Postural instability Abnormal intestine morphology Cachexia Rheumatoid arthritis Malnutrition Scleroderma Thoracic kyphosis Thoracolumbar scoliosis Protein-losing enteropathy Mucopolysacchariduria Orbital craniosynostosis


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