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23359005: Multiple malformation syndrome with facial-limb defects as major feature (disorder)

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
39212019 Multiple malformation syndrome with facial-limb defects as major feature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
752870014 Multiple malformation syndrome with facial-limb defects as major feature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
39212019 Multiple malformation syndrome with facial-limb defects as major feature en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
39212019 Multiple malformation syndrome with facial-limb defects as major feature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
752870014 Multiple malformation syndrome with facial-limb defects as major feature (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
752870014 Multiple malformation syndrome with facial-limb defects as major feature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

166 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome with facial-limb defects as major feature Is a Congenital anomaly of limb true Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial-limb defects as major feature Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial-limb defects as major feature Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial-limb defects as major feature Finding site Musculoskeletal structure of limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial-limb defects as major feature Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial-limb defects as major feature Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial-limb defects as major feature Finding site Limb structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial-limb defects as major feature Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple malformation syndrome with facial-limb defects as major feature Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple malformation syndrome with facial-limb defects as major feature Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple malformation syndrome with facial-limb defects as major feature Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple malformation syndrome with facial-limb defects as major feature Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple malformation syndrome with facial-limb defects as major feature Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple malformation syndrome with facial-limb defects as major feature Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple malformation syndrome with facial-limb defects as major feature Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Coffin-Lowry syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Trichorhinophalangeal syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Townes syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Ruvalcaba syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Nager syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Oculodentodigital syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly-ectodermal dysplasia-clefting syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Mietens syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Roberts-SC phocomelia syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
FG syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Oral-facial-digital syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Hay-Wells syndrome of ectodermal dysplasia (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Larsen syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Miller syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Shprintzen syndrome Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Ophthalmomandibulomelic dysplasia Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Seaver Cassidy syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoaminopterin syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Steinfeld syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Multicentric osteolysis nodulosis arthropathy spectrum Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 10p (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Cantu type Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Stevenson type (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Carpenter Waziri syndrome Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Smith Fineman Myers syndrome Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with brachydactyly and kyphoscoliosis syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterised 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. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Lethal faciocardiomelic dysplasia (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked mandibulofacial dysostosis Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Renal dysplasia with limb defect syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Ulna fibula ray defect and brachydactyly syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Tel Hashomer camptodactyly syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Trigonocephaly with broad thumb syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Acrofrontofacionasal dysostosis (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Acro-oto-ocular syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Acrorenal mandibular syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalopolydactyly (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Acrocraniofacial dysostosis (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Acromegaloid facial appearance syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 1 Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Catania type (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Kennedy Teebi type (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Palagonia type (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Rodriguez type (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Bohring Opitz syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Brachytelephalangy, facial dysmorphism, Kallmann syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial conodysplasia syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis Boston type (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Filippi syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
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). Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Schilbach Rott syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Scholte syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type I Is a False Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Distal limb deficiency with micrognathia syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
STAR syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Patterson Stevenson Fontaine syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Crisponi syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive faciodigitogenital syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Neurofaciodigitorenal syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Hemifacial microsomia with radial defect syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Ichthyosis, oral and digital anomalies syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia dysmorphism syndrome Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Is a True Multiple malformation syndrome with facial-limb defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)

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