Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.



Input patient's signs and symptoms


Narrow down the case reports



Total: 8 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.0%)		 12000365
 Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome.
Wang TJ, Huang CB, Tsai FJ, Wu JY, Lai RB, Hsiao M.
Clin Genet. 2002;61(3):218-21.
Cloverleaf skull
FGFR2
c|SUB|A||G p|SUB|Y|375|C;RS#:121913478 rs121913478
Amino Acid Substitution Cerebral Ventricles Fibroblast Growth Factor Receptor 2 Fibroblast Growth Factor Receptors Homo sapiens Infant Infant, Newborn Male Missense Mutation Receptor Protein-Tyrosine Kinases Syndrome Taiwan X-Ray Computed Tomography
1
(39.0%)		 11858399
 Isolated craniosynostosis: prenatal ultrasound of scaphocephaly with polyhydramnios.
Huang HW, Lin H, Chang SY, Hsu YH, Hsu TY.
Chang Gung Med J. 2001;24(12):816-9.
Trigonocephaly
Adult Brain Craniosynostosis Females Homo sapiens Polyhydramnios Pregnancy Ultrasonography, Prenatal
1
(39.0%)		 8879651
 A cloverleaf skull syndrome probably of Beare-Stevenson type associated with Chiari malformation.
Ito S, Matsui K, Ohsaki E, Goto A, Takagi K, Koresawa M, Ito S, Sekido K, Suzuki M, Torikai K, Aida N.
Brain Dev. 1996;18(4):307-11.
Cloverleaf skull
Apnea Arnold Chiari Malformation Craniosynostosis Fatal Outcome Females Homo sapiens Hydrocephalus Infant, Newborn Magnetic Resonance Imaging
1
(39.0%)		 1519658
 Beare-Stevenson cutis gyrata syndrome.
Hall BD, Cadle RG, Golabi M, Morris CA, Cohen MM Jr.
Am J Med Genet. 1992;44(1):82-9.
Cloverleaf skull
rs121918490 rs1554907364 rs1554928978
Craniosynostosis Females Homo sapiens Infant, Newborn Male Skin Abnormalities Syndrome
5
(23.3%)		 19816645
 Imaging findings of chronic subluxation of the os odontoideum and cervical myelopathy in a child with Beare-Stevenson cutis gyrata syndrome after surgery to the head and neck.
Too CW, Tang PH.
Ann Acad Med Singapore. 2009;38(9):832-4.
Cervical myelopathy Os odontoideum
Acanthosis Nigricans Cervical Vertebrae Child Craniofacial Abnormalities Females Homo sapiens Neck Operative Surgical Procedures Skin Abnormalities Syndrome X-Ray Computed Tomography
6
(4.0%)		 19175030
 [Multidisciplinary treatment for severe syndromic craniosynostosis].
Uyama A, Kawamura A, Yamamoto K, Nagashima T, Nishimoto S, Oyama T, Nishijima E, Satoh S, Nakao H, Nomura K, Otsu M, Sakamoto K.
No Shinkei Geka. 2009;37(1):25-34.
Hydrocephalus
Combined Modality Therapy Craniosynostosis Females Homo sapiens Hydrocephalus Infant Infant, Newborn Neurosurgical Procedures Perioperative Care Severity of Illness Index Syndrome
6
(4.0%)		 12145519
 A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene.
Akai T, Iizuka H, Kishibe M, Kawakami S, Kobayashi A, Ozawa T.
Pediatr Neurosurg. 2002;37(2):97-9.
Hydrocephalus
FGFR2
p|SUB|Y|375|C;RS#:121913478
Acanthosis Nigricans Child, Preschool Craniosynostosis DNA Mutational Analysis Females Fibroblast Growth Factor Receptor 1 Fibroblast Growth Factor Receptor 2 Fibroblast Growth Factor Receptors Homo sapiens Infant Magnetic Resonance Imaging Point Mutation Receptor Protein-Tyrosine Kinases Syndrome
6
(4.0%)		 11536267
 Prenatal sonographic appearance of Beare-Stevenson cutis gyrata syndrome: two- and three-dimensional ultrasonographic findings.
Hsu TY, Chang SY, Wang TJ, Ou CY, Chen ZH, Hsu PH.
Prenat Diagn. 2001;21(8):665-7.
Acanthosis nigricans
Acanthosis Nigricans Adult Craniosynostosis Differential Diagnosis Females Homo sapiens Imaging, Three-Dimensional Infant, Newborn Male Pregnancy Pregnancy Trimester, Third Syndrome Ultrasonography, Prenatal
        

Phenotype(s) retrieved from Orphanet

    Total: 44

HPO ID Term Frequency
HP:0000262 Turricephaly Very frequent (99-80%)
HP:0000268 Dolichocephaly Very frequent (99-80%)
HP:0000271 Abnormality of the face Very frequent (99-80%)
HP:0000272 Malar flattening Very frequent (99-80%)
HP:0000364 Hearing abnormality Very frequent (99-80%)
HP:0000400 Macrotia Very frequent (99-80%)
HP:0000453 Choanal atresia Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000520 Proptosis Very frequent (99-80%)
HP:0000929 Abnormal skull morphology Very frequent (99-80%)
HP:0000956 Acanthosis nigricans Very frequent (99-80%)
HP:0000982 Palmoplantar keratoderma Very frequent (99-80%)
HP:0000995 Melanocytic nevus Very frequent (99-80%)
HP:0001482 Subcutaneous nodule Very frequent (99-80%)
HP:0001732 Abnormality of the pancreas Very frequent (99-80%)
HP:0002098 Respiratory distress Very frequent (99-80%)
HP:0002676 Cloverleaf skull Very frequent (99-80%)
HP:0004450 Preauricular skin furrow Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0007469 Palmoplantar cutis gyrata Very frequent (99-80%)
HP:0009804 Reduced number of teeth Very frequent (99-80%)
HP:0009906 Aplasia/Hypoplasia of the earlobes Very frequent (99-80%)
HP:0010669 Hypoplasia of the zygomatic bone Very frequent (99-80%)
HP:0011800 Midface retrusion Very frequent (99-80%)
HP:0100761 Visceral angiomatosis Very frequent (99-80%)
HP:0000048 Bifid scrotum Frequent (79-30%)
HP:0000189 Narrow palate Frequent (79-30%)
HP:0001363 Craniosynostosis Frequent (79-30%)
HP:0003246 Prominent scrotal raphe Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000160 Narrow mouth Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000238 Hydrocephalus Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000391 Thickened helices Occasional (29-5%)
HP:0000463 Anteverted nares Occasional (29-5%)
HP:0000478 Abnormality of the eye Occasional (29-5%)
HP:0000504 Abnormality of vision Occasional (29-5%)
HP:0000648 Optic atrophy Occasional (29-5%)
HP:0000822 Hypertension Occasional (29-5%)
HP:0001537 Umbilical hernia Occasional (29-5%)
HP:0001545 Anteriorly placed anus Occasional (29-5%)
HP:0001597 Abnormality of the nail Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 4

HPO ID Term # of case reports
HP:0000956 Acanthosis nigricans 1
HP:0002318 Cervical myelopathy 1
HP:0005667 Os odontoideum 1
HP:0010609 Skin tags 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
FGFR2 fibroblast growth factor receptor 2 2263