Brachydactyly, and Small hand

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

• Intellectual disability
• Seizures
• Global developmental delay
• Microcephaly
• High palate

SOURCES: OMIM MENDELIAN

Medium match ACROFACIAL DYSOSTOSIS, WEYERS TYPE

Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.

ACROFACIAL DYSOSTOSIS, WEYERS TYPE Is also known as weyers acrodental dysostosis|acrodental dysostosis of weyers|weyers acrofacial dysostosis|curry-hall syndrome

• Seizures
• Short stature
• Brachydactyly
• Abnormality of the dentition
• Clinodactyly of the 5th finger

SOURCES: MESH ORPHANET OMIM MENDELIAN

Medium match SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE

Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE Is also known as smd, kozlowski type

• Short stature
• Scoliosis
• Growth delay
• Depressed nasal bridge
• Brachydactyly

SOURCES: OMIM MESH ORPHANET MENDELIAN

Medium match GELEOPHYSIC DYSPLASIA 3; GPHYSD3

• Short stature
• Abnormal facial shape
• Depressed nasal bridge
• Hepatomegaly
• Brachydactyly

SOURCES: OMIM MENDELIAN

Medium match SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

• Short stature
• Generalized hypotonia
• Growth delay
• Hypertelorism
• Strabismus

SOURCES: OMIM ORPHANET MENDELIAN

Medium match ACROMICRIC DYSPLASIA

Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.

• Short stature
• Growth delay
• Abnormal facial shape
• Brachydactyly
• Anteverted nares

SOURCES: OMIM ORPHANET MESH MENDELIAN

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

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

SOURCES: OMIM MENDELIAN

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4

Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 Is also known as med4|multiple epiphyseal dysplasia, autosomal recessive|rmed|edm4|polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia with bilayered patellae|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia with clubfoot

• Short stature
• Generalized hypotonia
• Scoliosis
• Muscular hypotonia
• Cleft palate

SOURCES: MESH OMIM ORPHANET MENDELIAN

Medium match SMITH-MCCORT DYSPLASIA 2; SMC2

Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC ), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013).For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (OMIM ).

• Intellectual disability
• Short stature
• Pain
• Brachydactyly
• Myopia

SOURCES: OMIM MENDELIAN

Medium match SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3

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 (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3 Is also known as srps2b|polydactyly with neonatal chondrodystrophy, type iii|verma-naumoff syndrome|asphyxiating thoracic dystrophy 3|short rib-polydactyly syndrome, type i|polydactyly with neonatal chondrodystrophy, type i|srps3|short rib-polydactyly syndrome, type iib|s

• Short stature
• Scoliosis
• Cleft palate
• Brachydactyly
• Talipes equinovarus

SOURCES: OMIM MENDELIAN