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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 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
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare systemic disorder characterised by vitreoretinal and macular degeneration, as well as occipital encephalocele. Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Localized macrodontia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intellectual disability, severe adult short stature and facial dysmorphism (including hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Anomaly of eye (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cleidocranial dysostosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
syndrome de Moynahan Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognathism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Accessory sternebral ossification site Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Van der Woude syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Odontotrichomelic syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Infracardiac location of anomalous pulmonary venous connection to hepatic vein (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Jaw congenital deformities Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare developmental defect during embryogenesis characterized by congenital lipomatous overgrowth, complex and progressive combined vascular malformations affecting the trunk, and epidermal nevi. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Nasal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Hallermann-Streiff syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital venous malformation of skin (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Encephalomyelocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (including larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (especially of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
hernie endo-auriculaire congénitale Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Atresia of pulmonary artery with septal defect Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Encephalocystocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
A rare disorder of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Fissured spine with hydrocephalus Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Roselli-Gulienetti ectodermal dysplasia (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital cerebral hernia Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Berlin syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachycardia or sinus bradycardia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Frontal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Temporal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital pulmonary lymphangiectasis Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Frontoethmoidal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuro-pituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Infracardiac location of anomalous pulmonary venous connections to portal system (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Single tooth macrodontia (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Tricho-oculodermovertebral syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Total anomalous pulmonary venous connection to hepatic vein Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Single left coronary artery supplying all of heart with usual distribution of right coronary artery derived from distal left coronary artery (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Single coronary artery dividing into right coronary artery and left coronary artery (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Tricho-dento-osseous syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Curly hair, ankyloblepharon, nail dysplasia syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Single right coronary artery supplying all of heart with usual distribution of left coronary artery derived from distal right coronary artery (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Xq28-Duplikationssyndrom, proximales Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cervical myelocystocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
syndrome de Schoef-Schulz-Passage Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Hidrotic ectodermal dysplasia syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Thoracic myelocystocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Oral-facial-digital syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrichosis localized on the extensor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated. Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Parietal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Solitary median maxillary central incisor syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
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 1
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability. Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Thoracic spina bifida without hydrocephalus - closed Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Opitz-Frias syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. Associated morphology False Morphologically abnormal structure Inferred relationship Some 1

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