TaoMedAI/RareMedData huggingface dataset:
Blue diaper syndrome (ORPHA:94086)
A rare inborn error of metabolism characterized by early-onset diarrhea, fever, recurrent hypoglycemia, hypercalcemia with nephrocalcinosis, metabolic acidosis, and indicanuria due to bacterial degradation of malabsorbed tryptophan with excessive indole production which, upon oxidation to indigo blue, causes bluish discoloration of urine spots in the diaper of the affected infant.
BNAR syndrome (ORPHA:217266)
BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (see this term) (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis, see these terms) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms).
Bockenheimer syndrome (ORPHA:217008)
A rare vascular anomaly characterized by congenital, progressive, circumscribed venous malformations (phlebectasias) primarily involving the upper and/or lower extremities, either on one side or bilaterally. The malformed vessels are visible beneath the skin. Veins of all sizes are affected. Pain, swelling, muscle wasting, and ulceration may occur.
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency (ORPHA:91135)
A rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.
Bolivian hemorrhagic fever (ORPHA:319229)
Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.
Bone dysplasia, lethal Holmgren type (ORPHA:1842)
A rare lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988.
Bonnemann-Meinecke-Reich syndrome (ORPHA:1261)
Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.
Boomerang dysplasia (ORPHA:1263)
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.
Epidemiology
The prevalence of BD is unknown.
Clinical description
Affected neonates are stillborn or die rapidly after birth and present clinically with severe short-limbed dwarfism, dislocated hip, knee and elbow joints, club feet and proviso born alive have severe cardio respiratory failure. Facial dysmorphism includes midface hypoplasia and cleft palate. Boomerang dysplasia clinically differs from AOI and AOIII because of the boomerang shaped bowing of the femur and occasionally observed encephalocele and omphalocele.
Etiology
BD results from missense mutations or small in-frame deletions in the FLNB gene reported in exons 2-5, normally expected to translate full length but biochemically abnormal filamin B protein.
Diagnostic methods
Diagnosis can be confirmed from skeletal radiographs, chondro-osseous histopathology and genetic testing. Distinctive radiographic findings are similar to AOI but, BD presents with a more severe deficiency in mineralization, with non-ossification of certain segments of limbs and vertebrates, and a boomerang-like shape of some long tubular bones.
Differential diagnosis
Comprises other skeletal dysplasias with severe short-limbed dwarfism such as achondrogenesis, campomelic dysplasia, Ellis-van Creveld syndrome, achondroplasia, metatropic dysplasia, Roberts syndrome, short rib-polydactyly syndrome and thanatophoric dysplasia. Additional differential diagnosis includes diseases associated with impaired ossification such achondrogenesis, hypophosphatasia, and osteogenesis imperfecta (see these terms).
Antenatal diagnosis
The prenatal diagnosis of BD is difficult to ascertain by ultrasound. Ultrasound shows thoracic hypoplasia, limb shortening, delayed ossification of spine and appendicular segments and possibly joint dislocations, similar to AOI and AOIII. Boomerang-shape morphology some long tubular bones may be diagnosed prenatally by 3D-CT scan.
Prognosis
Prognosis is poor, as the condition is lethal in utero.

                            Last update: 
                            July 2013


                            - Expert reviewer(s): 
                            Pr Stephen ROBERTSON
Bosley-Salih-Alorainy syndrome (ORPHA:69737)
Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.
Bothnia retinal dystrophy (ORPHA:85128)
Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens (see this term) in the posterior pole are also noted.
Boutonneuse fever (ORPHA:83313)
A rare spotted fever rickettsiosis caused by infection with the tick-borne bacterium Rickettsia conorii, characterized by the onset of fever after an incubation period of about a week, followed by a centripetally spreading maculopapular rash, which may evolve into a petechial form. Accompanying symptoms are headaches, myalgia and/or arthralgia, among others. The typical ''tache noire'' may be observed at the site of the tick bite for several days. The disease is endemic in Africa, Southern Europe, and India.
Brachydactylous dwarfism, Mseleni type (ORPHA:2619)
A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.
Brachydactyly type A1 (ORPHA:93388)
A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.
Brachydactyly type A2 (ORPHA:93396)
A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder.
Brachydactyly type A4 (ORPHA:93394)
A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.
Brachydactyly type A6 (ORPHA:93382)
A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.
Brachydactyly type A7 (ORPHA:93397)
A rare dysostosis with brachydactyly characterized by variable combinations of features of brachydactyly types A2 (such as delta-shaped middle phalanx of the second finger or toe) and D (short, broad distal phalanx of the thumb) and other types of brachydactyly (symphalangism), as well as unique features (dislocatable thumbs, lateral deviation of second toes with elevation of first toes). There have been no further descriptions in the literature since 1989.
Brachydactyly type B (ORPHA:93383)
A rare congenital limb malformation syndrome characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails. The thumbs are always intact but frequently show flattening, splitting or duplication of the distal phalanges. Digits on the radial side of the hand are less severely affected than those on the ulnar side. The feet are similarly affected but less severely. Soft tissue syndactyly, symphalangism, carpal and/or tarsal fusions and shortening of metacarpals and/or metatarsals may be present.
Brachydactyly type B1 (ORPHA:572385)
A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less severely affected than the hands.
Brachydactyly type B2 (ORPHA:140908)
A clinical subtype of brachydactyly type B characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.
Brachydactyly type C (ORPHA:93384)
A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable.
Brachydactyly type E (ORPHA:93387)
Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.
Epidemiology
BDE is very rare.
Clinical description
Occasionally, the metatarsals are also short. Hyperextensibility of the hand joints is a striking feature. Axial triradius may occur. Affected individuals may be of moderately short stature.
Etiology
BDE may be due to mutations in the PTHLH gene (12p12.1-p11.2) or HOXD13 (2q31-q32).
Antenatal diagnosis
It is inherited as an autosomal dominant trait with variable expressivity.

                            Last update: 
                            October 2010
Brachydactyly-arterial hypertension syndrome (ORPHA:1276)
A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood.
Brachydactyly-elbow wrist dysplasia syndrome (ORPHA:1275)
Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.
Brachydactyly-long thumb syndrome (ORPHA:2946)
A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981.
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome (ORPHA:1277)
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).
Brachydactyly-nystagmus-cerebellar ataxia syndrome (ORPHA:1246)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by brachydactyly, nystagmus, and cerebellar ataxia. Intellectual deficit and strabismus have also been reported. There have been no further descriptions in the literature since 1934.
Brachydactyly-preaxial hallux varus syndrome (ORPHA:1278)
A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994.
Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies.
Brachydactyly-syndactyly, Zhao type (ORPHA:93409)
Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.
Epidemiology
This syndrome has been described in two families.
Etiology
It is caused by HOXD13 mutations in 2q31-q32
Genetic counseling
Brachydactyly-syndactyly, Zhao type is inherited as an autosomal dominant trait.

                            Last update: 
                            October 2010
Brachymorphism-onychodysplasia-dysphalangism syndrome (ORPHA:1292)
A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.
Brachyolmia, Maroteaux type (ORPHA:93302)
A rare genetic spondylodysplastic dysplasia characterized by short trunk/short stature, generalized platyspondyly with rounding of vertebral bodies. The vertebral bodies show less elongation compared to patients with other types of the disorder. Precocious calcification of the cerebral falx and non-specific minor facial anomalies may be associated. There have been no new reports since 1989.
Brachyolmia-amelogenesis imperfecta syndrome (ORPHA:2899)
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.
Brachyolmia (ORPHA:1293)
Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.
Epidemiology
The prevalence of brachyolmia is not known, but the disorder is probably under-recognized. Fewer than 100 cases have been reported to date. Cases have been reported in various ethnic groups. However, most cases with the Hobaek/Toledo type reported so far were of Turkish origin.
Clinical description
Four types of brachyolmia have been described: autosomal recessive brachyolmia, Hobaek/Toledo type, autosomal recessive brachyolmia-amelogenesis imperfecta syndrome, autosomal dominant brachyolmia, and autosomal recessive brachyolmia, Maroteaux type (see these terms). The age of onset is generally in childhood with short stature becoming more evident with age. The clinical manifestations are generally mild to moderate, with minor physical functional repercussions. Some patients report non-specific back pain. The disorder is not associated with intellectual disability. AR brachyolmia, Hobaek/Toledo type is characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of costal cartilage occur in rare cases. In AR brachyolmia-amelogenesis imperfecta syndrome, short-trunked short stature is associated with platyspondyly and enamel abnormalities. AD brachyolmia is a more severe form with significant short-trunked short stature, platyspondyly and kyphoscoliosis. Lastly, presumably autosomal recessive brachyolmia, Maroteaux type is a vague entity that has not been well characterized but may involve short trunk/short stature, generalized platyspondyly and rounding vertebral bodies.
Etiology
Mutations in the PAPSS2 gene (10q24) have been found in patients with AR brachyolmia, Hobaek/Toledo type, and in the TRPV4 gene (12q24.1) in patients with AD brachyolmia. Precise pathogenesis is not well understood.
Diagnostic methods
Clinical and radiological findings are used to diagnose brachyolmia. Molecular genetic testing can also be used to confirm the diagnosis.
Differential diagnosis
The differential diagnosis includes other genetic skeletal dysplasia syndromes, particularly mild spondyloepiphyseal dysplasia, including mild type 2 collagenopathy and mild Morquio disease (see this term).
Antenatal diagnosis
Prenatal diagnosis is available on molecular grounds, when a mutation (or mutations) was ascertained in a familial case.
Genetic counseling
Brachyolmia follows either an autosomal recessive or rarely an autosomal dominant pattern of inheritance. Genetic counseling based on the mode of inheritance should be provided to affected families.
Management and treatment
No specific treatment is currently available for this disease.
Prognosis
The prognosis for patients with brachyolmia is generally very good.

                            Last update: 
                            March 2015


                            - Expert reviewer(s): 
                            Dr Gen NISHIMURA
Brachytelephalangy-dysmorphism-Kallmann syndrome (ORPHA:1295)
A rare developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986.
Braddock syndrome (ORPHA:52047)
Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.
Bradyopsia (ORPHA:75374)
A rare genetic retinal disorder characterized by childhood-onset of markedly delayed visual adaptation to both dark and light conditions, marked difficulties tracking moving objects, and mild photophobia. Visual acuity is variably reduced, while color vision is unaffected.
Brain calcification, Rajab type (ORPHA:178506)
A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.
Epidemiology
The syndrome has been described in eight children from two interrelated families.
Etiology
Brain calcification, Rajab type is associated with a genetic locus on chromosome 2.
Genetic counseling
Transmission is autosomal recessive.

                            Last update: 
                            October 2009
Brain dopamine-serotonin vesicular transport disease (ORPHA:352649)
A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
Epidemiology
The prevalence is unknown. It has been described in 8 patients from one Saudi Arabian family to date.
Clinical description
Disease onset presents in infancy with hypotonia, loss of acquired head control and persistent crying and eye deviation. Motor development is delayed and later manifestations include severe parkinsonism, dystonia, ataxia, oculogyric crises, sleep and mood disturbances, temperature instability, excessive diaphoresis, ptosis and postural hypotension. Symptoms show no diurnal variation, do not improve with intake of vitamin B12 or folinic acid and worsened after administration of L-dopa.
Etiology
Brain dopamine-serotonin vesicular transport disease is caused by a mutation in the SLC18A2 gene (10q25), encoding the vesicular monoamine transporter 2 (VMAT2) which is responsible for the transport of dopamine and serotonin into synaptic vesicles. Mutations in this gene lead to the impairment of VMAT2 and consequently to problems with motor control, autonomic functioning and mood regulation.
Genetic counseling
It is inherited in an autosomal recessive manner, and genetic counseling is recommended.

                            Last update: 
                            November 2013


                            - Expert reviewer(s): 
                            Dr Christoph KAMM