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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
Carrier of muscular dystrophy (finding) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of gem-like appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and ophthalmological abnormalities have also been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Carrier of von Willebrand disease (finding) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Amelogenesis imperfecta, hypocalcification type Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ponseti manipulation Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
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 True Morphologically abnormal structure Inferred relationship Some 1
A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Unipartite right ventricle (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Primary correction of clubfoot Direct morphology False Morphologically abnormal structure Inferred relationship Some 1
Prominent valve of inferior vena cava Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Sandman-Andra syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
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 True Morphologically abnormal structure Inferred relationship Some 1
A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital dysplasia of right lobe of lung co-occurrent with congenital vascular malformation (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Atrioventricular septal defect - ventricular component Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Carrier of hemoglobinopathy C disorder (finding) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cervical spina bifida with hydrocephalus - open Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Sacral spina bifida with hydrocephalus - open Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cervical spina bifida with hydrocephalus - closed Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Spina bifida with hydrocephalus - open Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lumbar spina bifida with hydrocephalus - closed Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Sacral spina bifida with hydrocephalus - closed Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lumbar spina bifida with hydrocephalus - open Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Lumbar spina bifida with hydrocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Störung der Geschlechtsentwicklung 46,XX, ovotestikuläre Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Moon's molar teeth Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Infection causing congenital anomaly Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Hutchinson's teeth Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Anomaly of fetal kidney Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Micro syndrome is an autosomal recessive disorder characterized by ocular and neurodevelopmental defects and by micro genitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Micro syndrome is an autosomal recessive disorder characterized by ocular and neurodevelopmental defects and by micro genitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Vestibular neuronitis of left inner ear (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilateral vestibular neuronitis of inner ears Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Bilateral vestibular neuronitis of inner ears Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Vestibular neuronitis of right inner ear (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Papillon-Lefèvre syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
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 1
Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Lack of ossification of auditory ossicles Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lack of ossification of vomer Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare genetic ectodermal dysplasia syndrome characterised by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lack of ossification of mandible Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Lack of ossification of premaxilla Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Multiple lentigines syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of pubis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cervical spinal hydromeningocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
A rare syndromic craniosynostosis characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare congenital disorder of glycosylation characterized by moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophrys and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, short femoral necks with coxa valga, clinodactyly and broad thumbs. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intellectual disability-facial dysmorphism-hand anomalies syndrome is a rare syndromic intellectual disability disorder characterized by moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly), and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intellectual disability-facial dysmorphism-hand anomalies syndrome is a rare syndromic intellectual disability disorder characterized by moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly), and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to severe intellectual disability and hypotonia. Distinctive craniofacial features include prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Joint laxity and ulnar deviation of wrists are also frequently observed. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, syndromic intellectual disability syndrome characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Thoracic spina bifida without hydrocephalus - open Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of supraoccipital bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Thoracic spina bifida with hydrocephalus - open Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Discontinuity between mitral valve and pulmonary valve (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Quadricuspid pulmonary valve Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital abnormality of arterial valves Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lack of ossification of tympanic anulus Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Right-left orientation of bicuspid pulmonary valve (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital fusion of pulmonary valve segment (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Anterior-posterior orientation of bicuspid pulmonary valve (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Bicuspid pulmonary valve Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Unicuspid aortic valve Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Commissural fusion of pulmonary valve Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Sacral agenesis Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of basisphenoid bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 4

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