Brachydactyly, and Single transverse palmar crease

Medium match MULTIPLE SYNOSTOSES SYNDROME

Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.

MULTIPLE SYNOSTOSES SYNDROME Is also known as wl syndrome|facio-audio-symphalangism|symphalangism-brachydactyly syndrome|deafness-hermann type symphalangism syndrome

• Brachydactyly
• Conductive hearing impairment
• Joint stiffness
• Facial asymmetry
• Short palm

SOURCES: ORPHANET MENDELIAN

Medium match ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE

Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE Is also known as acromesomelic dwarfism

• Scoliosis
• Cognitive impairment
• Brachydactyly
• Joint stiffness
• Neurological speech impairment

SOURCES: ORPHANET MENDELIAN

Medium match CRANIOSYNOSTOSIS 3; CRS3

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-3 includes coronal, sagittal, and multisuture forms (Sharma et al., 2013).For discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

• Global developmental delay
• Strabismus
• Ptosis
• Brachydactyly
• Syndactyly

SOURCES: OMIM MENDELIAN

Medium match BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME

• Pes cavus
• Thin upper lip vermilion
• Camptodactyly of finger
• Single transverse palmar crease
• Tall stature

SOURCES: OMIM MENDELIAN

Medium match FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME

Fibular aplasia-complex brachydactyly syndrome is characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (WCDMP1).

FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME Is also known as du pan syndrome

• Short stature
• Brachydactyly
• Syndactyly
• Severe short stature
• Finger syndactyly

SOURCES: ORPHANET OMIM MESH MENDELIAN

Medium match JAWAD SYNDROME

Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.

JAWAD SYNDROME Is also known as microcephaly with mental retardation and digital anomalies|kelly syndrome

• Intellectual disability
• Microcephaly
• Cryptorchidism
• Intellectual disability, severe
• Syndactyly

SOURCES: OMIM ORPHANET 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 LAURENCE-MOON SYNDROME

Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

• Intellectual disability
• Short stature
• Ataxia
• Nystagmus
• Strabismus

SOURCES: ORPHANET MENDELIAN

Medium match RIN2 SYNDROME

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

• Intellectual disability
• Short stature
• Scoliosis
• Muscular hypotonia
• Cryptorchidism

SOURCES: OMIM ORPHANET MESH MENDELIAN

Medium match X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.

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

SOURCES: OMIM ORPHANET MENDELIAN