Delayed speech and language development, and Polydactyly

Low match NEPHRONOPHTHISIS 20; NPHP20

Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by Macia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

• Autosomal recessive inheritance
• Short stature
• Scoliosis
• Abnormal facial shape
• Rod-cone dystrophy

SOURCES: OMIM DOID MONDO UMLS

Low match JOUBERT SYNDROME 20; JBTS20

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

SOURCES: DOID OMIM UMLS MONDO

Low match MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS

MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.

MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS Is also known as morm syndrome;intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome; mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Microcephaly
• Abnormal facial shape
• Cataract

SOURCES: ORPHANET GARD SCTID UMLS MONDO OMIM MESH

Low match BARDET-BIEDL SYNDROME 13; BBS13

BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa (Leitch et al., 2008; Xing et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Pica
• Obesity

SOURCES: DOID MESH UMLS OMIM MONDO

Low match BARDET-BIEDL SYNDROME 21; BBS21

BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

• Autosomal recessive inheritance
• Delayed speech and language development
• Myopia
• Blindness
• Abnormality of the dentition

SOURCES: UMLS MONDO OMIM

Low match RETINITIS PIGMENTOSA 71; RP71

• Autosomal recessive inheritance
• Scoliosis
• Delayed speech and language development
• Blindness
• Abnormality of the skeletal system

SOURCES: OMIM UMLS

Low match JOUBERT SYNDROME 24; JBTS24

Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by Huppke et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

• Autosomal recessive inheritance
• Global developmental delay
• Generalized hypotonia
• Ataxia
• Nystagmus

SOURCES: MONDO OMIM DOID UMLS

Low match SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

• Autosomal recessive inheritance
• Short stature
• Cryptorchidism
• Delayed speech and language development
• Brachydactyly

SOURCES: MONDO UMLS OMIM DOID

Low match SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD

gene, localised to the p11.21 region of the X chromosome.

SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD Is also known as mental retardation, x-linked, syndromic, siderius type, siderius-hamel syndrome;

• Intellectual disability
• Scoliosis
• Cryptorchidism
• Nevus
• Delayed speech and language development

SOURCES: ORPHANET MONDO GARD DOID OMIM UMLS MESH

Low match OROFACIODIGITAL SYNDROME XIV; OFD14

mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.

OROFACIODIGITAL SYNDROME XIV; OFD14 Is also known as ;microcephaly-cerebral malformation-orofaciodigital syndrome; ofd14; oral-facial-digital syndrome type 14

• Autosomal recessive inheritance
• Intellectual disability
• Microcephaly
• Cleft palate
• Abnormal facial shape

SOURCES: ORPHANET MONDO UMLS OMIM