| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S). |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Craniosynostosis with facial dysmorphism and brachydactyly syndrome |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare disorder of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Dacryocystitis and osteopoikilosis syndrome (disorder) |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by costovertebral ossification defects with small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent dysmorphic craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most common extraosseous manifestations are renal abnormalities such as multicystic kidneys. The disease is usually perinatally lethal due to respiratory insufficiency. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter). |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be associated. There have been no further descriptions in the literature since 1994. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Robinow-like syndrome |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by early onset of hypertension and multifocal stenotic lesions of various arteries (including cerebral, renal, abdominal, and coronary). Variable additional features include learning difficulties, mild facial dysmorphism, anomalies of the fingers and toes, bone fragility, and congenital heart defects. |
Is a |
True |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes. |
Is a |
True |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. |
Is a |
True |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Ballard syndrome has characteristics of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. The syndrome has been described in 12 members from four generations of one family. Transmission appears to be autosomal dominant. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic syndrome characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| syndrome de nanisme ostéochondrodysplasique-surdité-rétinopathie pigmentaire |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Ichthyose-Hypotrichose-Syndrom |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. |
Is a |
True |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| syndrome de dyschondrostéose - néphropathie |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Parastremmatic dwarfism (disorder) |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Basal epidermolysis bullosa simplex (disorder) |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals, in the absence of renal disease. Autosomal recessive inheritance has been suggested. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Recessive dystrophic epidermolysis bullosa |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in two chromosome regions, one localized to chromosome 1 and the other to chromosome 14. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant. |
Is a |
True |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare congenital disorder of bone resorption characterised by generalised skeletal densification. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. |
Is a |
True |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. |
Is a |
False |
Connective tissue hereditary disorder |
Inferred relationship |
Some |
|
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