Strabismus, and Short metacarpal

Low match NANCE-HORAN SYNDROME

Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.

NANCE-HORAN SYNDROME Is also known as cataract-dental syndrome|mesiodens-cataract syndrome|cataract, x-linked, with hutchinsonian teeth

• Intellectual disability
• Global developmental delay
• Nystagmus
• Strabismus
• Cataract

SOURCES: ORPHANET OMIM MESH MENDELIAN

Low match CHONDRODYSPLASIA-DISORDER OF SEX DEVELOPMENT SYNDROME

Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development (see this term), reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (see this term; normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.

CHONDRODYSPLASIA-DISORDER OF SEX DEVELOPMENT SYNDROME Is also known as nivelon-nivelon-mabille syndrome

• Intellectual disability
• Microcephaly
• Growth delay
• Strabismus
• Intrauterine growth retardation

SOURCES: OMIM ORPHANET MESH MENDELIAN

Low match IVIC SYNDROME

IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.

IVIC SYNDROME Is also known as oculo-oto-radial syndrome|oculootoradial syndrome|oors|radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

• Hearing impairment
• Scoliosis
• Growth delay
• Strabismus
• Thrombocytopenia

SOURCES: OMIM ORPHANET MESH MENDELIAN

Low match SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME Is also known as smd-crd

• Short stature
• Scoliosis
• Growth delay
• Nystagmus
• Failure to thrive

SOURCES: ORPHANET OMIM MESH MENDELIAN

Low match SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: OMIM ORPHANET MENDELIAN

Low match PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME

PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME Is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis

• Intellectual disability
• Short stature
• Generalized hypotonia
• Microcephaly
• Scoliosis

SOURCES: ORPHANET OMIM MENDELIAN

Low match PELGER-HUET ANOMALY; PHA

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

• Intellectual disability
• Global developmental delay
• Hypertelorism
• Failure to thrive
• Strabismus

SOURCES: OMIM MESH MENDELIAN

Low match CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

• Short stature
• Hypertelorism
• Failure to thrive
• Strabismus
• Cleft palate

SOURCES: OMIM MESH ORPHANET MENDELIAN

Low match 15Q13.3 MICRODELETION SYNDROME

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

• Seizures
• Schizophrenia
• Bipolar affective disorder

SOURCES: MESH MENDELIAN

Low match HAND-FOOT-GENITAL SYNDROME

Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.

HAND-FOOT-GENITAL SYNDROME Is also known as hfgs|hand-foot-uterus syndrome|hfu

• Strabismus
• Brachydactyly
• Ventricular septal defect
• Renal insufficiency
• Hypospadias

SOURCES: MESH ORPHANET OMIM MENDELIAN