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Shprintzen-Goldberg syndrome
1 OMIM reference -
2 associated genes
92 connected diseases
55 signs/symptoms
Disease Type of connection
Familial thoracic aortic aneurysm and aortic dissection
1p36 deletion syndrome
Acromicric dysplasia
Geleophysic dysplasia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Isolated ectopia lentis
Marfan syndrome type 1
Neonatal Marfan syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Stiff skin syndrome
Weill-Marchesani syndrome
Acute promyelocytic leukemia
Familial pancreatic carcinoma
Autosomal dominant cutis laxa
Autosomal recessive cutis laxa type 1
Acute basophilic leukemia
Essential thrombocythemia
Aneurysm - osteoarthritis syndrome
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Supravalvular aortic stenosis
Williams syndrome
Acrocallosal syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Atypical Rett syndrome
Intellectual deficit, X-linked - psychosis - macroorchidism
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Trisomy Xq28
X-linked non-syndromic intellectual deficit
Lethal arteriopathy syndrome due to FBLN4 deficiency
Congenital glaucoma
Juvenile glaucoma
Marshall-Smith syndrome
Sotos syndrome
Wagner disease
Alobar holoprosencephaly
Combined pituitary hormone deficiencies, genetic forms
Lobar holoprosencephaly
Loeys-Dietz syndrome type 1
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Multiple keratoacanthoma, Ferguson-Smith type
Precursor T-cell acute lymphoblastic leukemia
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Cowden syndrome
Proteus syndrome
Adrenocortical carcinoma
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
B-cell chronic lymphocytic leukemia
BOR syndrome
Beta-thalassemia - X-linked thrombocytopenia
Boomerang dysplasia
Branchio-otic syndrome
Congenital erythropoietic porphyria
Estrogen resistance syndrome
Familial gastric cancer
Familial isolated dilated cardiomyopathy
Familial partial lipodystrophy due to AKT2 mutations
Familial retinoblastoma
Gastric linitis plastica
Giant cell glioblastoma
Hereditary sensorimotor neuropathy with hyperelastic skin
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Left ventricular noncompaction
Li-Fraumeni syndrome
Monosomy 13q14
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Spinocerebellar ataxia type 7
Spondylocarpotarsal synostosis
Thrombocytopenia with congenital dyserythropoietic anemia
Unilateral retinoblastoma
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Congenital contractural arachnodactyly
Congenital stromal corneal dystrophy
Dyssegmental dysplasia, Silverman-Handmaker type
Myelofibrosis with myeloid metaplasia
Schwartz-Jampel syndrome
- Marfanoid craniosynostosis syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C537328

Gene symbol UniProt reference OMIM reference
FBN1 P35555134797
SKI P12755164780
Very frequent
- Dolichocephaly / scaphocephaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Flat foot
- High vaulted / narrow palate
- Hypertelorism
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long hand / arachnodactyly
- Low set ears / posteriorly rotated ears
- Marfanoid morphotype
- Micrognathia / retrognathia / micrognathism / retrognathism
- Proptosis / exophthalmos
- Telecanthus / canthal dystopy

- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Camptodactyly of some fingers
- Communicating hydrocephaly
- Craniostenosis / craniosynostosis / sutural synostosis
- Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes
- Frontal bossing / prominent forehead
- High forehead
- Hyperextensible joints / articular hyperlaxity
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Inguinal / inguinoscrotal / crural hernia
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Pectus carinatum
- Pectus excavatum
- Ptosis
- Scoliosis
- Strabismus / squint
- Talipes-varus / metatarsal varus
- Umbilical hernia

- Abnormal vertebral size / shape
- Absent / hypotonic / flaccid abdominal wall muscles
- Anteverted nares / nostrils
- Apnea / sleep apnea
- Arnold-Chiari anomaly
- Autosomal dominant inheritance
- Bowed diaphysis / diaphyses / long bones
- Conductive deafness / hearing loss
- Dilated cerebral ventricles without hydrocephaly
- Elbow dislocation
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Genu valgum
- Hyperelastic skin / cutaneous hyperlaxity
- Large fontanelle / delayed fontanelle closure
- Metaphyseal anomaly
- Microcephaly
- Myopia
- Narrow rib cage / thorax
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Prominent / bat ears
- Restricted joint mobility / joint stiffness / ankylosis
- Rib number anomalies
- Undescended / ectopic testes / cryptorchidia / unfixed testes