| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
4 |
| The patients are born with hair that falls out and is not replaced. Histologic studies show malformation of the hair follicles. Papillary lesions over most of the body and almost complete absence of hair are features. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
| syndrome de déficience intellectuelle liée à l'X-agénésie du corps calleux-quadriparésie spastique |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
9 |
| A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
9 |
| A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
5 |
| A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
4 |
| Anonychia with bizarre flexural pigmentation |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| Bilateral congenital absence of ovary (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| Bilateral congenital absence of ovary (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| Bilateral congenital absence of fallopian tube (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| Bilateral congenital absence of fallopian tube (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
| Congenital absence of urinary bladder and urethra (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| Congenital absence of urinary bladder and urethra (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
7 |
| Anencephaly without rachischisis (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| 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. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
| A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| A rare disorder characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| 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. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| Incomplete congenital absence of thigh AND leg |
Associated morphology |
False |
Congenital absence |
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. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
7 |
| A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
| A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
7 |
| A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
4 |
| Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
5 |
| A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
8 |
| A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
4 |
| 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. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| Congenital absence of pelvis and lower limb |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| 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. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
5 |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
5 |
| A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around a hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerized tomography. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
5 |
| A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
5 |
| Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
9 |
| 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. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
5 |
| Congenital absence of gastric muscle (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
| A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
6 |
| 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. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
4 |
| Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| Lumbosacral agenesis (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| Autosomal recessive aplasia cutis congenita of limb (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
8 |
| A rare ophthalmic disorder characterized by bilateral ptosis, upper ocular movement limitation, absence of the lacrimal punctum and facial dysmorphism including, narrow and squared forehead, bilateral thick and arched eyebrows, absence of bilateral lower medial eyelashes, telecanthus, mild anteverted nostrils, a relatively long philtrum and maxillary hypoplasia. Some patients may have low set and dysplastic ears. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| Omocephalus |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| Omocephalus |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| Acephalobrachius |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
| Fetal anencephaly (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| Anencephaly without rachischisis (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
| Sirenomelus (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
7 |
| Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterised by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
| A rare disorder characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| Craniosynostosis fibular aplasia syndrome (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
10 |
| Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
6 |
| A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
9 |
| An extremely rare syndrome reported in two siblings of non-consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| An extremely rare syndrome reported in two siblings of non-consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| An extremely rare congenital limb malformation syndrome, described in only 3 patients to date, characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
8 |
| 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. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
4 |
| Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. |
Associated morphology |
False |
Congenital absence |
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. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
6 |
| Congenital absence of forearm and hand |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
4 |
| Congenital absence of forearm and hand |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
5 |
| Congenital absence of forearm and hand |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
6 |
| Congenital absence of right mandibular condyle |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
| Congenital absence of left mandibular condyle |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
| Agenesis of left kidney (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
| Right renal agenesis |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
| Left renal agenesis co-occurrent with right renal hypoplasia |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| Agenesis of right kidney co-occurrent with congenital dysplasia of left kidney (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| Agenesis of left kidney co-occurrent with congenital dysplasia of right kidney (disorder) |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| Right renal agenesis co-occurrent with left renal hypoplasia |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
3 |
| Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
| Congenital absence of left hand |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
| Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
| Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophrys, large eyes) and optic atrophy have been observed. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
| Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
2 |
| Congenital absence of right hand |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
| A rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases. |
Associated morphology |
False |
Congenital absence |
Inferred relationship |
Some |
1 |
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