Brachydactyly, and Limb-girdle muscular dystrophy

Medium match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Ataxia

SOURCES: MESH OMIM MENDELIAN

Low match MARINESCO-SJÖGREN SYNDROME

Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

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

SOURCES: ORPHANET OMIM MENDELIAN

Low match MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

• Short stature
• Generalized hypotonia
• Hearing impairment
• Growth delay
• Neoplasm

SOURCES: OMIM MENDELIAN

Low match FAMILIAL OSTEOCHONDRITIS DISSECANS

Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

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

SOURCES: MESH ORPHANET OMIM MENDELIAN

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2R

Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2R Is also known as autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency|lgmd2r

• Muscular dystrophy

SOURCES: ORPHANET MENDELIAN

Low match ATYPICAL RETT SYNDROME

Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term).

ATYPICAL RETT SYNDROME Is also known as atypical rtt|rett syndrome variant|autism, dementia, ataxia, and loss of purposeful hand use|rts

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

SOURCES: OMIM ORPHANET MENDELIAN

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2N

Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2N Is also known as muscular dystrophy, limb-girdle, autosomal recessive 14|lgmd2n|muscular dystrophy, limb-girdle, type 2n|lgmdr14|muscular dystrophy-dystroglycanopathy, limb-girdle, pomt2-related

• Muscle weakness
• Motor delay
• Elevated serum creatine phosphokinase
• Proximal muscle weakness
• Muscular dystrophy

SOURCES: ORPHANET OMIM MENDELIAN

Low match INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3 Is also known as multisystem proteinopathy 3|msp3

• Muscle weakness
• Cognitive impairment
• Myopathy
• Elevated serum creatine phosphokinase
• Proximal muscle weakness

SOURCES: OMIM MENDELIAN

Low match MIYOSHI MUSCULAR DYSTROPHY 1; MMD1

Miyoshi muscular dystrophy is an autosomal recessive skeletal muscle disorder characterized by onset in young adulthood of distal muscle weakness affecting the upper and lower limbs but sparing the intrinsic hand muscles. Muscle weakness and atrophy particularly affects the gastrocnemius and soleus muscles, and can later spread to involve the thigh and gluteal muscles. Patients showed impaired tiptoe standing, difficulty in climbing stairs, and difficulty walking, but usually remain ambulatory. Serum creatine kinase is increased and muscle biopsies show myopathic and dystrophic changes with necrosis (summary by Miyoshi et al., 1986). Genetic Heterogeneity of Miyoshi Muscular DystrophyMiyoshi muscular dystrophy is a genetically heterogeneous disorder: MMD2 (OMIM ) has been mapped to chromosome 10p, and MMD3 (OMIM ) is caused by mutation in the ANO5 gene (OMIM ) on chromosome 11p14.See also Welander myopathy (OMIM ), an autosomal dominant form of late-onset distal myopathy.

MIYOSHI MUSCULAR DYSTROPHY 1; MMD1 Is also known as muscular dystrophy, distal, late-onset, autosomal recessive|miyoshi myopathy

• Muscle weakness
• Skeletal muscle atrophy
• Myopathy
• Elevated serum creatine phosphokinase
• Difficulty walking

SOURCES: OMIM MENDELIAN

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O

Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O Is also known as lgmdr15|muscular dystrophy, limb-girdle, type 2o|muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related|lgmd2o|muscular dystrophy, limb-girdle, autosomal recessive 15

• Muscle weakness
• Motor delay
• Myopia
• Skeletal muscle atrophy
• Fatigue

SOURCES: ORPHANET OMIM MENDELIAN