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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
Multiple anterior segment anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Fusion of kidneys (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of thyroid cartilage Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Focal dermal hypoplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia, cryptorchidism), as well as anal anomalies such as anal atresia and rectovesical fistula. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, Strudwick type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bertolotti's syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of parathyroid glands Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital myopathy with abnormal subcellular organelles Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hypospadias and epispadias Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Epiblepharon Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Isolation of left common carotid artery (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of scapula Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Abnormal lung lobation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Anomalous valve of coronary sinus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Inverted pelvis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Anterolateral muscle band Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital portal-systemic shunt Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of presphenoid bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital abnormality of uterus complicating antenatal care, baby not yet delivered Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of vas deferens Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Straight back syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital abnormality of tricuspid papillary muscle (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of cartilage Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Trichodental syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Faun tail syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small, pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Anonychia with bizarre flexural pigmentation Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ectopic pancreas in duodenum Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
dysplasie dermodentaire Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Tricho-onychodental dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Frontonasal dysplasia sequence Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Salamon's syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Thoracolumbar spina bifida with hydrocephalus - closed (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Complete phocomelia of upper limb Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Flynn-Aird syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Hypohidrotic X-linked ectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
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 Morphologically abnormal structure Inferred relationship Some 4
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 True Morphologically abnormal structure Inferred relationship Some 1
Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Megacystis-megaureter syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Occipital encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Ectodermal dysplasia, syndactyly and pili torti Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Johanson-Blizzard syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Situs inversus abdominalis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Robinow-like syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Relative generalised macrodontia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Odonto-onychial dysplasia with alopecia Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Infracardiac location of anomalous pulmonary venous connection with two descending veins (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Schinzel-Giedion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
An extremely rare polymalformative syndrome. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Thoracic spina bifida with hydrocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Duane-radial ray syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Fried's tooth and nail syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Hypohidrosis-diabetes insipidus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Odonto-onycho-dermal dysplasia (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Encephalocele of vertex (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Situs inversus thoracis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Situs inversus with levocardia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Notomelus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Hypospadias, hypertelorism, coloboma, deafness syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Dwarfism, alopecia, pseudoanodontia, cutis laxa Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Spina bifida aperta of cervical spine (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones). Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
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 True Morphologically abnormal structure Inferred relationship Some 2

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