Delayed speech and language development, and Type I diabetes mellitus

High match ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2

Acrodysostosis-2 is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by Michot et al., 2012 and Lee et al., 2012).For a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 (OMIM ).

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

SOURCES: UMLS OMIM MONDO

Medium match ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME; AHDS Is also known as allan-herndon syndrome, monocarboxylate transporter 8 deficiency, triiodothyronine resistance, t3 resistance, mental retardation, x-linked, with hypotonia, mental retardation and muscular atrophy;ahds; mct8 deficiency; monocarboxylate transporter 8 deficiency; x-linked intellectual disability-hypotonia syndrome

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Pica
• Microcephaly

SOURCES: UMLS SCTID ORPHANET MONDO GARD NCIT OMIM DOID MESH

Medium match AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD

AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD Is also known as ;

• Autosomal recessive inheritance
• Global developmental delay
• Generalized hypotonia
• Pica
• Failure to thrive

SOURCES: MONDO ORPHANET GARD UMLS OMIM

Medium match SCALP-EAR-NIPPLE SYNDROME; SENS

Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).

SCALP-EAR-NIPPLE SYNDROME; SENS Is also known as finlay-marks syndrome, sen syndrome;finlay-marks syndrome

• Autosomal dominant inheritance
• Global developmental delay
• Generalized hypotonia
• Pica
• Abnormal facial shape

SOURCES: MONDO UMLS OMIM MESH SCTID ORPHANET GARD

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16; SCAR16

Autosomal recessive spinocerebellar ataxia-16 is a progressive neurologic disorder characterized by truncal and limb ataxia resulting in gait instability. Most patients have onset in the teenage years, although earlier and later onset have been reported. Additional features may include dysarthria, nystagmus, spasticity of the lower limbs, and mild peripheral sensory neuropathy (summary by Shi et al., 2013).

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16; SCAR16 Is also known as ;scar16; spinocerebellar ataxia autosomal recessive type 16

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Hearing impairment
• Ataxia

SOURCES: MONDO UMLS OMIM ORPHANET DOID

Medium match IMMUNODEFICIENCY 31C; IMD31C

Immunodeficiency-31C is an autosomal dominant disorder of immunologic dysregulation with highly variable manifestations. Most patients present in infancy or early childhood with chronic mucocutaneous candidiasis (CMC). Other highly variable features include recurrent bacterial, viral, fungal, and mycoplasmal infections, disseminated dimorphic fungal infections, enteropathy with villous atrophy, and autoimmune disorders, such as hypothyroidism or diabetes mellitus. A subset of patients show apparently nonimmunologic features, including osteopenia, delayed puberty, and intracranial aneurysms. Laboratory studies show increased activation of gamma-interferon (IFNG )-mediated inflammation (summary by Uzel et al., 2013 and Sampaio et al., 2013).

IMMUNODEFICIENCY 31C; IMD31C Is also known as candidiasis, familial, 7;candf7, candidiasis, familial chronic mucocutaneous, autosomal dominant;

• Autosomal dominant inheritance
• Global developmental delay
• Short stature
• Growth delay
• Anemia

SOURCES: UMLS ORPHANET OMIM GARD MONDO

Medium match SHWACHMAN-DIAMOND SYNDROME; SDS

Shwachman-Diamond syndrome is a multisystem autosomal recessive disorder characterized by exocrine pancreatic dysfunction, bony metaphyseal dysostosis, and varying degrees of marrow dysfunction with cytopenias. Myelodysplastic syndrome and acute myeloid leukemia occur in up to one third of patients (summary by Dror and Freedman, 1999).For a review of Shwachman-Diamond syndrome, see Dror and Freedman (2002).

SHWACHMAN-DIAMOND SYNDROME; SDS Is also known as pancreatic insufficiency and bone marrow dysfunction, shwachman-bodian syndrome, lipomatosis of pancreas, congenital;pancreatic insufficiency and bone marrow dysfunction; sds; shwachman syndrome; shwachman-bodian-diamond syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: ORPHANET UMLS OMIM SCTID MONDO

Medium match MARINESCO-SJOGREN SYNDROME; MSS

Marinesco-Sjogren syndrome is an autosomal recessive disorder characterized primarily by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. Other features include short stature, hypergonadotropic hypogonadism, and skeletal deformities due to muscle weakness. MSS is genetically distinct from congenital cataracts, facial dysmorphism, and neuropathy (CCFDN ), which is caused by mutation in the CTDP1 gene (OMIM ) on chromosome 18q23, although the 2 disorders share some overlapping features, including congenital cataracts, delayed psychomotor development, and ataxia. The major distinguishing features are the presence of peripheral neuropathy, facial dysmorphism, and microcornea in CCFDN (Lagier-Tourenne et al., 2003).

MARINESCO-SJOGREN SYNDROME; MSS Is also known as ;

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

SOURCES: ORPHANET OMIM UMLS SCTID DOID GARD MONDO

Medium match EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS

Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by permanent neonatal or early infancy insulin-dependent diabetes. Epiphyseal dysplasia, osteoporosis, and growth retardation develop at a later age. Other frequent multisystem manifestations include hepatic and renal dysfunction, mental retardation, and cardiovascular abnormalities (summary by Delepine et al., 2000).

EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS Is also known as med-iddm syndrome, iddm-med syndrome, wolcott-rallison syndrome;early-onset diabetes mellitus with multiple epiphyseal dysplasia; wrs

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

SOURCES: NCIT UMLS MONDO GARD MESH SCTID DOID ORPHANET OMIM

Medium match ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS; ACPHD

ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS; ACPHD Is also known as ;combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome

• Autosomal recessive inheritance
• Seizures
• Short stature
• Hearing impairment
• Ataxia

SOURCES: UMLS MONDO ORPHANET OMIM