Table 3. [Monogenic Disorders Associated with Complex...]. - GeneReviews®

Gene(s)	Differential Disorder	MOI	CDH ¹	Other Characteristic Features
GPC3 GPC4 ²	Simpson-Golabi-Behmel syndrome type 1 (SGBS1)	XL	Rare	Overgrowth (pre- & postnatal), macrocephaly, dysmorphic features (coarse facies, macrostomia, wide-set eyes, palatal abnormalities), polydactyly, syndactyly, CHD & mild-to-severe ID ± structural brain anomalies Overgrowth, skeletal anomalies, & tumors distinguish SGBS1 from Fryns syndrome. ³
EFNB1	Craniofrontonasal syndrome (CFNS) (OMIM 304110)	XL	Rare (can occur in both males & females w/CFNS)	Coronal synostosis, facial anomalies (wide-set eyes, wide nasal tip), & skeletal anomalies
PORCN	Focal dermal hypoplasia (Goltz syndrome)	XL	Rare	Linear skin pigmentation, fat herniation, eye anomalies incl microphthalmia, small teeth, digital anomalies
BRD4 HDAC8 NIPBL ⁴ RAD21 SMC1A SMC3	Cornelia de Lange syndrome (CdLS)	AD XL	Rare	Facial anomalies (high-arched &/or joined eyebrows, long eyelashes, short nose w/anteverted nares, small & widely spaced teeth), microcephaly, growth restriction, hirsutism, upper-limb reduction defects, ID, autistic features, self-destructive behavior
WT1	WT1 disorder (incl Denys-Drash syndrome, Frasier syndrome, Meacham syndrome) ⁵	AD	Rare	Urogenital anomalies, Wilms tumor, nephropathy, glomerulopathy, disorders of sexual development
FBN1	Marfan syndrome	AD	Rare	Musculoskeletal, cardiac, & ocular defects; diaphragmatic eventration & hernia can be assoc w/early-onset Marfan syndrome. ⁶
NR2F2	Congenital heart defects, multiple types, 4 (OMIM 615779)	AD	Variable	Fryns syndrome-like craniofacial anomalies, cardiovascular malformations, hypoplastic genitalia or cryptorchidism, severe prenatal growth deficiency, ID, talipes equinovarus &/or rockerbottom feet, single umbilical artery
LRP2	Donnai-Barrow syndrome	AR	Core feature	Facial anomalies (wide-set eyes, enlarged anterior fontanelle); high myopia, retinal detachment, progressive vision loss, iris coloboma, sensorineural deafness; agenesis of corpus callosum; omphalocele; ID
RARB STRA6	Matthew-Wood syndrome (PDAC syndrome; syndromic microphthalmia) (OMIM 615524, 601186)	AR AD	Core	Micro-/anophthalmia, pulmonary agenesis or hypoplasia, CHD, genitourinary anomalies Matthew-Wood syndrome is not assoc w/small nails or small digits.

Gene(s)

Differential Disorder

MOI

CDH ¹

Other Characteristic Features

GPC3
GPC4 ²

Simpson-Golabi-Behmel syndrome type 1 (SGBS1)

Rare

Overgrowth (pre- & postnatal), macrocephaly, dysmorphic features (coarse facies, macrostomia, wide-set eyes, palatal abnormalities), polydactyly, syndactyly, CHD & mild-to-severe ID ± structural brain anomalies
Overgrowth, skeletal anomalies, & tumors distinguish SGBS1 from Fryns syndrome. ³

EFNB1

Craniofrontonasal syndrome (CFNS) (OMIM 304110)

Rare (can occur in both males & females w/CFNS)

Coronal synostosis, facial anomalies (wide-set eyes, wide nasal tip), & skeletal anomalies

PORCN

Focal dermal hypoplasia (Goltz syndrome)

Rare

Linear skin pigmentation, fat herniation, eye anomalies incl microphthalmia, small teeth, digital anomalies

BRD4
HDAC8
NIPBL ⁴
RAD21
SMC1A
SMC3

Cornelia de Lange syndrome (CdLS)

AD
XL

Rare

Facial anomalies (high-arched &/or joined eyebrows, long eyelashes, short nose w/anteverted nares, small & widely spaced teeth), microcephaly, growth restriction, hirsutism, upper-limb reduction defects, ID, autistic features, self-destructive behavior

WT1

WT1 disorder (incl Denys-Drash syndrome, Frasier syndrome, Meacham syndrome) ⁵

Rare

Urogenital anomalies, Wilms tumor, nephropathy, glomerulopathy, disorders of sexual development

FBN1

Marfan syndrome

Rare

Musculoskeletal, cardiac, & ocular defects; diaphragmatic eventration & hernia can be assoc w/early-onset Marfan syndrome. ⁶

NR2F2

Congenital heart defects, multiple types, 4 (OMIM 615779)

Variable

Fryns syndrome-like craniofacial anomalies, cardiovascular malformations, hypoplastic genitalia or cryptorchidism, severe prenatal growth deficiency, ID, talipes equinovarus &/or rockerbottom feet, single umbilical artery

LRP2

Donnai-Barrow syndrome

Core feature

Facial anomalies (wide-set eyes, enlarged anterior fontanelle); high myopia, retinal detachment, progressive vision loss, iris coloboma, sensorineural deafness; agenesis of corpus callosum; omphalocele; ID

RARB
STRA6

Matthew-Wood syndrome (PDAC syndrome; syndromic microphthalmia) (OMIM 615524, 601186)

AR
AD

Core

Micro-/anophthalmia, pulmonary agenesis or hypoplasia, CHD, genitourinary anomalies
Matthew-Wood syndrome is not assoc w/small nails or small digits.

From: Fryns Syndrome

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