237836003: Short stature disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Body measurement finding\Height / growth finding (finding)\General finding of height\Disorder of stature\Short stature disorder

\Finding of general physiological development\Disorder of stature\Short stature disorder

\Disease\Developmental disorder\Disorder of stature\Short stature disorder

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short stature disorder	Is a	Disorder of stature	true	Inferred relationship	Some
Short stature disorder	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Short stature disorder	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Constitutional short stature	Is a	False	Short stature disorder	Inferred relationship	Some
Nutritional stunting	Is a	True	Short stature disorder	Inferred relationship	Some
Laron-type isolated somatotropin defect	Is a	True	Short stature disorder	Inferred relationship	Some
Congenital malformation syndromes associated with short stature	Is a	True	Short stature disorder	Inferred relationship	Some
Primordial dwarfism	Is a	True	Short stature disorder	Inferred relationship	Some
Dwarfism NEC	Is a	False	Short stature disorder	Inferred relationship	Some
Other specified dwarfism NEC	Is a	False	Short stature disorder	Inferred relationship	Some
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa	Is a	False	Short stature disorder	Inferred relationship	Some
Dwarfism	Is a	False	Short stature disorder	Inferred relationship	Some
Leprechaunism syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
On examination - short stature	Is a	False	Short stature disorder	Inferred relationship	Some
Constitutional short stature (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Short stature associated with bone marrow transplant (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including trident aspect of the acetabula and metaphyseal changes.	Is a	False	Short stature disorder	Inferred relationship	Some
Senile dwarfism	Is a	False	Short stature disorder	Inferred relationship	Some
Maroteaux-Lamy syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Infantile dwarf	Is a	True	Short stature disorder	Inferred relationship	Some
Renal dwarfism	Is a	True	Short stature disorder	Inferred relationship	Some
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome	Is a	False	Short stature disorder	Inferred relationship	Some
Dolichocephalic dwarfism	Is a	True	Short stature disorder	Inferred relationship	Some
Pituitary dwarfism	Is a	False	Short stature disorder	Inferred relationship	Some
Dwarfism, alopecia, pseudoanodontia, cutis laxa	Is a	True	Short stature disorder	Inferred relationship	Some
Asexual dwarfism	Is a	True	Short stature disorder	Inferred relationship	Some
Rud's syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Tryptophanuria with dwarfism	Is a	True	Short stature disorder	Inferred relationship	Some
Metatropic dysplasia (disorder)	Is a	False	Short stature disorder	Inferred relationship	Some
Achondroplasia	Is a	False	Short stature disorder	Inferred relationship	Some
Geleophysic dysplasia	Is a	True	Short stature disorder	Inferred relationship	Some
Short stature due to radiation therapy (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Hypothyroid dwarfism	Is a	True	Short stature disorder	Inferred relationship	Some
Thanatophoric dysplasia	Is a	False	Short stature disorder	Inferred relationship	Some
Rachitic dwarf	Is a	True	Short stature disorder	Inferred relationship	Some
Mauriac's syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Diastrophic dysplasia	Is a	True	Short stature disorder	Inferred relationship	Some
Myhre syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Acromicric dysplasia	Is a	True	Short stature disorder	Inferred relationship	Some
Achondrogenesis	Is a	False	Short stature disorder	Inferred relationship	Some
Family history of short stature	Associated finding	True	Short stature disorder	Inferred relationship	Some	1
Short stature co-occurrent and due to endocrine disorder (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.	Is a	True	Short stature disorder	Inferred relationship	Some
A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactyly, slight generalized hypotonia and hyper extensible joints.	Is a	True	Short stature disorder	Inferred relationship	Some
Growth delay due to IGF-I resistance is characterized by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).	Is a	True	Short stature disorder	Inferred relationship	Some
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.	Is a	True	Short stature disorder	Inferred relationship	Some
Dyssegmental dysplasia with glaucoma syndrome	Is a	False	Short stature disorder	Inferred relationship	Some
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed.	Is a	True	Short stature disorder	Inferred relationship	Some
A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.	Is a	True	Short stature disorder	Inferred relationship	Some
A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers.	Is a	True	Short stature disorder	Inferred relationship	Some
Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.	Is a	True	Short stature disorder	Inferred relationship	Some
Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.	Is a	True	Short stature disorder	Inferred relationship	Some
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsia and brachyphalangia).	Is a	True	Short stature disorder	Inferred relationship	Some
12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.	Is a	True	Short stature disorder	Inferred relationship	Some
Carpenter Waziri syndrome	Is a	False	Short stature disorder	Inferred relationship	Some
Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.	Is a	True	Short stature disorder	Inferred relationship	Some
Sparse hair with short stature and skin anomaly syndrome	Is a	False	Short stature disorder	Inferred relationship	Some
Smith Fineman Myers syndrome	Is a	False	Short stature disorder	Inferred relationship	Some
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.	Is a	True	Short stature disorder	Inferred relationship	Some
Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.	Is a	False	Short stature disorder	Inferred relationship	Some
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.	Is a	True	Short stature disorder	Inferred relationship	Some
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.	Is a	True	Short stature disorder	Inferred relationship	Some
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993.	Is a	True	Short stature disorder	Inferred relationship	Some
An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.	Is a	False	Short stature disorder	Inferred relationship	Some
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.	Is a	True	Short stature disorder	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others.	Is a	True	Short stature disorder	Inferred relationship	Some
A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.	Is a	True	Short stature disorder	Inferred relationship	Some
A rare developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986.	Is a	True	Short stature disorder	Inferred relationship	Some
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.	Is a	True	Short stature disorder	Inferred relationship	Some
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).	Is a	True	Short stature disorder	Inferred relationship	Some
Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short, webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents.	Is a	True	Short stature disorder	Inferred relationship	Some
A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported.	Is a	True	Short stature disorder	Inferred relationship	Some
Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.	Is a	True	Short stature disorder	Inferred relationship	Some
This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.	Is a	True	Short stature disorder	Inferred relationship	Some
Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.	Is a	True	Short stature disorder	Inferred relationship	Some
A rare syndrome characterized 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	Short stature disorder	Inferred relationship	Some
A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.	Is a	False	Short stature disorder	Inferred relationship	Some
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.	Is a	True	Short stature disorder	Inferred relationship	Some
A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963.	Is a	True	Short stature disorder	Inferred relationship	Some
A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.	Is a	True	Short stature disorder	Inferred relationship	Some
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.	Is a	True	Short stature disorder	Inferred relationship	Some
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations.	Is a	True	Short stature disorder	Inferred relationship	Some
syndrome de nanisme ostéochondrodysplasique-surdité-rétinopathie pigmentaire	Is a	False	Short stature disorder	Inferred relationship	Some
Idiopathic short stature (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.	Is a	True	Short stature disorder	Inferred relationship	Some
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.	Is a	True	Short stature disorder	Inferred relationship	Some
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.	Is a	True	Short stature disorder	Inferred relationship	Some
This syndrome is characterized by severe growth retardation associated with immunodeficiency.	Is a	True	Short stature disorder	Inferred relationship	Some
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	False	Short stature disorder	Inferred relationship	Some
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.	Is a	True	Short stature disorder	Inferred relationship	Some
Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.	Is a	True	Short stature disorder	Inferred relationship	Some
Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two siblings and characterised by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.	Is a	True	Short stature disorder	Inferred relationship	Some
A rare disorder characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.	Is a	True	Short stature disorder	Inferred relationship	Some
A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.	Is a	True	Short stature disorder	Inferred relationship	Some
Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.	Is a	True	Short stature disorder	Inferred relationship	Some
A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures.	Is a	True	Short stature disorder	Inferred relationship	Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.	Is a	True	Short stature disorder	Inferred relationship	Some
Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.	Is a	True	Short stature disorder	Inferred relationship	Some
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).	Is a	True	Short stature disorder	Inferred relationship	Some
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.	Is a	True	Short stature disorder	Inferred relationship	Some
Short stature of childhood (disorder)	Is a	True	Short stature disorder	Inferred relationship	Some
Floating-Harbor syndrome	Is a	True	Short stature disorder	Inferred relationship	Some
Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.	Is a	True	Short stature disorder	Inferred relationship	Some
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).	Is a	True	Short stature disorder	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
356421013	Small stature	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356423011	Short stature disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626620013	Short stature disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2162284013	SS - Short stature	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2920995012	Short stature	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1845041000195117	disturbo della bassa statura	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3386221013	insuffisance staturale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
47571000188117	retard staturo-pondéral	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
426281000274117	Kleinwuchs	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
464251000274113	Zwergwuchs	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module