Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Dysosteosclerosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Microspherophakia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Microspherophakia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Dumbbell ossification of centrum of thoracic vertebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Thoracoschisis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ectopic ureterocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Vascular malformation of inner ear |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Choledochocele (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hemifacial microsomia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Craniopagus parietalis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Patent ductus arteriosus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital tricuspid atresia and stenosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Muscular ventricular septal defect in outlet septum (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Mirror imaged atria |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital esophagotracheal fistula |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Parietal encephalocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital abnormality of great veins and coronary sinus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Patent ductus arteriosus with left-to-right shunt |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Isolation of brachiocephalic trunk |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare oromandibular-limb hypogenesis syndrome (OLHS) characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. It may be associated with other abnormalities such as cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (e.g. oligodactyly, syndactyly and polydactyly). |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
A rare oromandibular-limb hypogenesis syndrome (OLHS) characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. It may be associated with other abnormalities such as cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (e.g. oligodactyly, syndactyly and polydactyly). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare oromandibular-limb hypogenesis syndrome (OLHS) characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. It may be associated with other abnormalities such as cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (e.g. oligodactyly, syndactyly and polydactyly). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Inferior vena cava connecting to right atrium and left atrium (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Brachymetapodia of first metatarsal |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Abnormal plantar creases |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Pseudodiastrophic dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ectodermal dysplasia with tooth-nail defects |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Radial polydactyly Wassel 2 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterised by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Solid rudimentary uterus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital urethrorectal fistula |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Lumbar myelocystocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Incomplete ossification of carpal bone |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Atrial septal defect through coronary sinus orifice |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenism. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Generalised recessive dystrophic epidermolysis bullosa mitis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Localized congenital cutis laxa (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Syndactyly of toes with fusion of bones (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Torsion of accessory fallopian tube |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hypochondrogenesis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital abnormal vertical shortness of eyelids |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Trichorhinophalangeal dysplasia type I |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Generalized epidermolysis bullosa simplex |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Infantile GM1 gangliosidosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Right ventricular outflow tract obstruction due to prolapse of Eustachian valve (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cutis laxa, recessive, type I |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital malformation of blood vessel of orbit proper (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital absence, atresia and stenosis of small intestine |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital absence, atresia and stenosis of small intestine |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital abnormality of right atrioventricular valve leaflet in double inlet ventricle (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Long narrow head |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Bone dysplasia Azouz type |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
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. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hydromicrocephaly |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Osteosclerosis - Stanescu type |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
A rare neurologic disease characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
A rare neurologic disease characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
A rare neurologic disease characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |