Delayed speech and language development, and Microtia

Medium match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: UMLS MONDO OMIM

Medium match WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS

Wilson-Turner syndrome is an X-linked recessive neurologic disorder characterized by intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Females are unaffected (Wilson et al., 1991).

WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS Is also known as mental retardation, x-linked, syndromic 6;mrxs6, mental retardation, x-linked, with gynecomastia and obesity;wts; x-linked intellectual disability-gynecomastia-obesity syndrome

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Microcephaly

SOURCES: DOID ORPHANET MONDO OMIM MESH SCTID GARD UMLS

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA Is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis;

• Autosomal recessive inheritance
• Intellectual disability
• Short stature
• Generalized hypotonia
• Microcephaly

SOURCES: ORPHANET UMLS OMIM MONDO

Medium match MEIER-GORLIN SYNDROME 3; MGORS3

• Autosomal recessive inheritance
• Short stature
• Microcephaly
• Growth delay
• Micrognathia

SOURCES: MONDO UMLS OMIM

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: DOID MONDO NCIT MESH UMLS OMIM

Medium match ASPARTYLGLUCOSAMINURIA

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

• Intellectual disability
• Seizures
• Scoliosis
• Hypertelorism
• Abnormal facial shape

SOURCES: ORPHANET SCTID

Medium match ABLEPHARON-MACROSTOMIA SYNDROME; AMS

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

ABLEPHARON-MACROSTOMIA SYNDROME; AMS Is also known as ;

• Autosomal recessive inheritance
• Autosomal dominant inheritance
• Global developmental delay
• Hearing impairment
• Microcephaly

SOURCES: SCTID MONDO GARD MESH OMIM UMLS ORPHANET DOID

Medium match MEIER-GORLIN SYNDROME 6; MGORS6

• Autosomal dominant inheritance
• Global developmental delay
• Hearing impairment
• Micrognathia
• Strabismus

SOURCES: UMLS MONDO OMIM

Medium match HELSMOORTEL-VAN DER AA SYNDROME; HVDAS

HELSMOORTEL-VAN DER AA SYNDROME; HVDAS Is also known as mental retardation, autosomal dominant 28;mrd28;

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: MONDO GARD DOID OMIM ORPHANET UMLS

Medium match MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA

Mandibulofacial dysostosis with microcephaly is a rare syndrome comprising progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate (summary by Lines et al., 2012).

MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA Is also known as mandibulofacial dysostosis with microcephaly;mfdm, growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate;mfdm syndrome; mandibulofacial dysostosis, guion-almeida type

• Autosomal recessive inheritance
• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay

SOURCES: MONDO ORPHANET SCTID OMIM MESH UMLS DOID GARD