Delayed speech and language development, and Syndactyly

Low match CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME

recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.

CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME Is also known as ;trisomy xp11.22-p11.23

• Intellectual disability
• Seizures
• Pica
• Delayed speech and language development
• Intellectual disability, severe

SOURCES: SCTID DOID ORPHANET MESH UMLS MONDO GARD OMIM

Low match BRACHYDACTYLY, TYPE A1, D; BDA1D

• Autosomal dominant inheritance
• Delayed speech and language development
• Brachydactyly
• Clinodactyly of the 5th finger
• Syndactyly

SOURCES: DOID UMLS MONDO OMIM

Low match JOUBERT SYNDROME 20; JBTS20

• Autosomal recessive inheritance
• Global developmental delay
• Respiratory insufficiency
• Syndactyly
• Congenital onset

SOURCES: DOID OMIM UMLS MONDO

Low match VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2; VCRL2

VCRL2 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017).For a discussion of genetic heterogeneity of VCRL, see VCRL1 (OMIM ).

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2; VCRL2 Is also known as congenital nad deficiency disorder 2, kynureninase deficiency, complete

• Microcephaly
• Delayed speech and language development
• Patent ductus arteriosus
• Syndactyly
• Narrow chest

SOURCES: OMIM

Low match 5Q14.3 MICRODELETION SYNDROME

The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as del(5)(q14.3); monosomy 5q14.3

• Seizures
• Strabismus
• Muscular hypotonia
• Feeding difficulties
• Delayed speech and language development

SOURCES: ORPHANET

Low match YOU-HOOVER-FONG SYNDROME; YHFS

YOU-HOOVER-FONG SYNDROME; YHFS Is also known as ;you-hoover-fong syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: UMLS OMIM ORPHANET MONDO

Low match PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: OMIM UMLS MONDO

Low match CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

• Autosomal dominant inheritance
• Global developmental delay
• Generalized hypotonia
• Microcephaly
• Scoliosis

SOURCES: OMIM MONDO UMLS

Low match SWEENEY-COX SYNDROME; SWCOS

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

• Global developmental delay
• Hearing impairment
• Hypertelorism
• Micrognathia
• Ptosis

SOURCES: OMIM

Low match DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

• Intellectual disability
• Seizures
• Scoliosis
• Strabismus
• Motor delay

SOURCES: ORPHANET