Delayed speech and language development, and Platyspondyly

Low match OSTEOGENESIS IMPERFECTA, TYPE XVII; OI17

• Autosomal recessive inheritance
• Short stature
• Generalized hypotonia
• Scoliosis
• Motor delay

SOURCES: DOID UMLS OMIM MONDO

Low match GM1-GANGLIOSIDOSIS, TYPE III

GM1-gangliosidosis type III is an autosomal recessive lysosomal storage disorder characterized by neurodegeneration and mild skeletal changes. Age at onset ranges from 3 to 30 years. The disorder is less severe than GM1-gangliosidosis types I and II (OMIM ). Type III shows extreme clinical variability, with some patients having only focal neurologic signs, such as dystonia, and others having more severe involvement with extrapyramidal signs and mental retardation. GLB1 enzymatic activity usually ranges from approximately 4 to 10% of control values (Suzuki et al., 2001).

GM1-GANGLIOSIDOSIS, TYPE III Is also known as gangliosidosis, generalized gm1, adult type, gangliosidosis, generalized gm1, chronic type, gangliosidosis, generalized gm1, type iii, gangliosidosis, generalized gm1, type 3;adult-onset gm1 gangliosidosis

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Short stature
• Scoliosis

SOURCES: OMIM GARD UMLS SCTID ORPHANET MONDO

Low 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

Low match GERODERMA OSTEODYSPLASTICUM; GO

Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.

GERODERMA OSTEODYSPLASTICUM; GO Is also known as gerodermia osteodysplastica, walt disney dwarfism;

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Microcephaly
• Scoliosis

SOURCES: SCTID MESH OMIM ORPHANET MONDO GARD UMLS

Low match OSTEOGLOPHONIC DYSPLASIA; OGD

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

OSTEOGLOPHONIC DYSPLASIA; OGD Is also known as osteoglophonic dwarfism;osteoglophonic dwarfism

• Autosomal dominant inheritance
• Intellectual disability
• Pica
• Scoliosis
• Hypertelorism

SOURCES: OMIM SCTID GARD UMLS MONDO ORPHANET MESH

Low match FUCOSIDOSIS

Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex.Fucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival (Kousseff et al., 1976).

FUCOSIDOSIS Is also known as alpha-l-fucosidase deficiency

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

SOURCES: OMIM

Low match ASPARTYLGLUCOSAMINURIA; AGU

Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycosylasparaginase deficiency, aspartylglucosaminidase deficiency, aga deficiency, glycoasparaginase, aspartylglycosaminuria

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

SOURCES: NCIT OMIM

Low match OSTEOGENESIS IMPERFECTA, TYPE XV; OI15

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.

OSTEOGENESIS IMPERFECTA, TYPE XV; OI15 Is also known as oi, type xv

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Short stature
• Pica

SOURCES: DOID OMIM MONDO UMLS

Low match COLE-CARPENTER SYNDROME 2; CLCRP2

• Autosomal recessive inheritance
• Short stature
• Pica
• Hypertelorism
• Motor delay

SOURCES: MONDO UMLS OMIM

Low match EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; EDSP2

The features of the progeroid form of Ehlers-Danlos syndrome include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).Also see Ehlers-Danlos syndrome with short stature and limb anomalies (EDSSLA ).

• Autosomal recessive inheritance
• Global developmental delay
• Generalized hypotonia
• Cleft palate
• Talipes equinovarus

SOURCES: OMIM MONDO UMLS