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49755003: Morphologically abnormal structure (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
82877014 Abnormal tissue appearance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495494014 Morphologically abnormal structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3371000077116 structure anormale sur le plan morphologique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5223 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Morphologically abnormal structure Is a Morphologically altered structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
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. Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
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 True Morphologically abnormal structure Inferred relationship Some 4
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Thoracolumbar spina bifida without hydrocephalus - closed Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
True generalized microdontia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
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 True Morphologically abnormal structure Inferred relationship Some 2
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Radicular dens invaginatus (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
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. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991. Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Modified Johanson operation for claw toe with arthrodesis Direct morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
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. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Repair of claw toe Direct morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983. Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Carrier of beta thalassemia (finding) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Marshall syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Drash syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Familial mesangial sclerosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
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. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Primary correction of congenital deformity of foot Direct morphology False Morphologically abnormal structure Inferred relationship Some 1
Carrier of alpha thalassemia (finding) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Exstrophy of cloaca sequence Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Exstrophy of cloaca sequence Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect - isolated ventricular component Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cardiomyopathy and renal anomaly syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Atrioventricular septal defect: atrial and ventricular components Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Xeroderma, talipes and enamel defect syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with separate atrioventricular orifices (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Stickler syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare developmental defect during embryogenesis characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
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. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Carrier of Duchenne muscular dystrophy (finding) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further reports since 1992. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Larsen syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Carrier of familial dysautonomia (finding) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital nephrotic syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Carrier of hemoglobinopathy disorder (finding) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Obstructed interchordal space of tricuspid chordae tendinae (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
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. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dental midlines coincident and incorrect Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under superior bridging leaflet without chordal attachment to ventricular septal crest (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Finnish congenital nephrotic syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with common atrioventricular orifice (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
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. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hypogonadism with anosmia Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Hyperganglionosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
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. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Congenital malformation of blood vessel of orbit proper (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Pachyonychia congenita type III of Schafer-Brunauer (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Repair of interrupted aortic arch (procedure) Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
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. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Carrier of fragile X chromosome (finding) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Jackson-Weiss syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Tripartite right ventricle (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997. Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Vitellointestinal band Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Carrier of Canavan disease (finding) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Right atrial appendage - left - juxtaposition Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
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. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Carrier of hemoglobinopathy E disorder (finding) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastroesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
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. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Pachyonychia congenita type II of Jackson-Lawler (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Tendon transfer and arthrodesis to correct claw toe Direct morphology False Morphologically abnormal structure Inferred relationship Some 3
Carrier of muscular dystrophy (finding) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1

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