| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Hypochondroplasia |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Mesomelic dysplasia |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Dysostosis |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Defects of the tubular (and flat) bones and/or axial skeleton |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Epiphyseal dysplasia |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Brachyrachia (short spine dysplasia) |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Dysplasias with significant membranous bone involvement |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Multiple dislocations with dysplasia |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Osteodysplastic primordial dwarfism |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Dysplasia with decreased bone density |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Dysplasia with defective mineralization |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Dysplasia with increased bone density |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Disorganised development of cartilaginous and fibrous components of the skeleton |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Idiopathic osteolyses |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Spondylodysplastic group |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Short rib dysplasia group (with or without polydactyly) |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Kniest-Stickler dysplasia group |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Spondyloepiphyseal dysplasia congenita |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Chondrodysplasia punctata (stippled epiphyses) group (disorder) |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Bent bone dysplasia group |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Dysostosis multiplex group |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Acromesomelic dysplasia syndrome |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| chondrodysplasie ponctuée congénitale |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary patellar dysostosis characterised by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Metatropic dysplasia (disorder) |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Ehlers-Danlos syndrome |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Achondrogenesis |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Bone island |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Ectopic bone tissue, congenital |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Metaphyseal chondrodysplasia |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Weill-Marchesani syndrome (disorder) |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Greig cephalopolysyndactyly syndrome |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Spondyloepiphyseal dysplasia congenita |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Leri's pleonosteosis syndrome |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Atelosteogenesis (disorder) |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Osteochondrodysplasia with osteopetrosis |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Beals auriculo-osteodysplasia syndrome |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Multiple synostosis syndrome |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Antley-Bixler syndrome |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Accessory ossification center |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Brachydactyly syndrome type E |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Miller syndrome |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Baller-Gerold syndrome |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Chondrodysplasia |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Osteodysplasia |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Symphalangism-brachydactyly syndrome |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Congenital hip dysplasia |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Osteoplastic dysplasia (disorder) |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare disorder characterised by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anaemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait. |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Ehlers-Danlos syndrome (disorder) |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Camurati-Engelmann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterised by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Vitamin D-dependent rickets, type 1 |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Vitamin D-dependent rickets, type 2 |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Progressive myositis ossificans |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Kyphosis in skeletal dysplasia |
Associated with |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
2 |
| A rare disorder characterised by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anaemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait. |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Camurati-Engelmann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterised by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Chondroectodermal dysplasia |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Cherubism with gingival fibromatosis (disorder) |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Hajdu-Cheney syndrome |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Scoliosis in skeletal dysplasia |
Associated with |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
2 |
| Lordosis in skeletal dysplasia |
Associated with |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
2 |
| 3-M syndrome |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Tarsal-carpal coalition syndrome |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Congenital hip dysplasia |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Osteoarthritis of hip due to dysplasia (disorder) |
Due to |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
1 |
| Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpalia. |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactyly, slight generalized hypotonia and hyper extensible joints. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Defects of tubular bones and spine (disorder) |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| 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 |
True |
Congenital skeletal dysplasia (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 |
True |
Congenital skeletal dysplasia (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 |
True |
Congenital skeletal dysplasia (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 |
True |
Congenital skeletal dysplasia (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 |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Caudal regression syndrome |
Is a |
False |
Congenital skeletal dysplasia (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 |
Congenital skeletal dysplasia (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 |
True |
Congenital skeletal dysplasia (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 |
True |
Congenital skeletal dysplasia (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 |
True |
Congenital skeletal dysplasia (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 |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. |
Is a |
True |
Congenital skeletal dysplasia (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 |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Spondyloperipheral dysplasia (disorder) |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. |
Is a |
True |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency. |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis. |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| syndrome d'Ehlers-Danlos type vasculaire-like |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
| Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). |
Is a |
False |
Congenital skeletal dysplasia (disorder) |
Inferred relationship |
Some |
|
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