Craniodigital syndrome and intellectual disability syndrome

MedGen UID:: 333293
•Concept ID:: C1839311
•: Disease or Syndrome

Synonyms:	Craniodigital syndrome-intellectual disability syndrome; Scott Bryant Graham syndrome
SNOMED CT:	Scott craniodigital syndrome (763665007); Scott Bryant Graham syndrome (763665007); Craniodigital syndrome and intellectual disability syndrome (763665007)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record Autosomal recessive inheritance (Orphanet) X-linked recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0015463
OMIM®:	272440
Orphanet:	ORPHA1514

Definition

Syndrome with manifestations of syndactyly of the fingers and toes, characteristic facies (startled facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit. Less than 10 cases have been described in the literature so far. Abnormal dermatoglyphic patterns, growth retardation and brachycephaly have also been reported. Transmission appears to be autosomal or X-linked recessive. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCraniodigital syndrome and intellectual disability syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Craniodigital syndrome and intellectual disability syndrome

Follow this link to review classifications for Craniodigital syndrome and intellectual disability syndrome in Orphanet.

Recent clinical studies

Etiology

Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation.

Schorderet DF, Addor MC, Maeder P, Roulet E, Junier L
Genet Couns 2002;13(4):441-7. PMID: 12558115

Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature.

Franceschini P, Licata D, Guala A, Di Cara G, Franceschini D
Genet Couns 2002;13(3):343-52. PMID: 12416644

An additional case of craniodigital syndrome: variable expression of the Filippi syndrome?

Orrico A, Hayek G
Clin Genet 1997 Sep;52(3):177-9. doi: 10.1111/j.1399-0004.1997.tb02540.x. PMID: 9377808

The craniodigital syndrome of Scott: report of a second family.

Lorenz P, Hinkel GK, Hoffmann C, Rupprecht E
Am J Med Genet 1990 Oct;37(2):224-6. doi: 10.1002/ajmg.1320370211. PMID: 2174209

See all (4)

Diagnosis

Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus.

Karakaya T, Bilgic AE, Eris D, Baser B, Mermer S, Yildiz O
Am J Med Genet A 2021 Jul;185(7):2198-2203. Epub 2021 Apr 29 doi: 10.1002/ajmg.a.62223. PMID: 33913579

Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature.

Franceschini P, Licata D, Guala A, Di Cara G, Franceschini D
Genet Couns 2002;13(3):343-52. PMID: 12416644

An additional case of craniodigital syndrome: variable expression of the Filippi syndrome?

Orrico A, Hayek G
Clin Genet 1997 Sep;52(3):177-9. doi: 10.1111/j.1399-0004.1997.tb02540.x. PMID: 9377808

On the nosology of the craniodigital syndromes: report of a family and review of the literature.

Soekarman D, Volcke P, Fryns JP
Genet Couns 1997;8(3):217-22. PMID: 9327265

Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis.

Toriello HV, Higgins JV
Am J Med Genet 1995 Jan 16;55(2):200-4. doi: 10.1002/ajmg.1320550210. PMID: 7717418

See all (5)

Prognosis

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders.

Di Stazio M, Zanus C, Faletra F, Pesaresi A, Ziccardi I, Morgan A, Girotto G, Costa P, Carrozzi M, d'Adamo AP, Musante L
Genes (Basel) 2023 Jan 18;14(2) doi: 10.3390/genes14020250. PMID: 36833176 Free PMC Article

The craniodigital syndrome of Scott: report of a second family.

Lorenz P, Hinkel GK, Hoffmann C, Rupprecht E
Am J Med Genet 1990 Oct;37(2):224-6. doi: 10.1002/ajmg.1320370211. PMID: 2174209

See all (2)