Motor delay, and Pectus excavatum

Diseases related with Motor delay and Pectus excavatum

In the following list you will find some of the most common rare diseases related to Motor delay and Pectus excavatum that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Medium match CAP MYOPATHY

Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.

CAP MYOPATHY Is also known as cap disease

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • High palate
  • Motor delay
  • Myopathy


SOURCES: MESH ORPHANET MENDELIAN

More info about CAP MYOPATHY

Other less relevant matches:

SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 2; SOTOS2

Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M

CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME Is also known as congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cryptorchidism
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006).

OSTEOGENESIS IMPERFECTA, TYPE VII; OI7 Is also known as oi2b, formerly|osteogenesis imperfecta, type iib, formerly|oi, type vii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE VII; OI7

Top 5 symptoms//phenotypes associated to Motor delay and Pectus excavatum

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Motor delay and Pectus excavatum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture Muscular hypotonia Muscular dystrophy Macrocephaly Increased variability in muscle fiber diameter Frequent falls Respiratory insufficiency Respiratory failure Difficulty running Hypertelorism Lumbar hyperlordosis Long face Downslanted palpebral fissures Ventriculomegaly Facial palsy Poor head control Hydrocephalus

Rare Symptoms - Less than 30% cases

Narrow face Reduced tendon reflexes Growth delay Long fingers Talipes equinovarus Delayed speech and language development Nasal speech Intellectual disability Pes valgus Easy fatigability Difficulty climbing stairs Generalized amyotrophy Gowers sign Short stature Hyporeflexia Respiratory insufficiency due to muscle weakness Narrow chest Decreased fetal movement Generalized muscle weakness Respiratory distress Dysphagia Failure to thrive Neck muscle weakness Centrally nucleated skeletal muscle fibers Congenital muscular dystrophy EMG: myopathic abnormalities Severe muscular hypotonia Pes cavus Joint laxity Neonatal hypotonia Gastroesophageal reflux Feeding difficulties Delayed gross motor development Open mouth Global developmental delay Seizures Falls Hyperlordosis Proximal muscle weakness Waddling gait Spinal rigidity Osteopenia Craniosynostosis Pectus carinatum Retrognathia Recurrent fractures Agenesis of corpus callosum Kyphosis Blue sclerae Wormian bones Frontal bossing Proptosis Pes planus Encephalopathy Respiratory tract infection Paralysis Camptodactyly of finger Areflexia Mitral valve prolapse Midface retrusion Recurrent pneumonia Bulbar palsy Increased connective tissue Diaphragmatic paralysis Respiratory arrest Increased endomysial connective tissue Restrictive ventilatory defect Gastrostomy tube feeding in infancy Cleft palate Platyspondyly Hyperkeratosis Microretrognathia Limb muscle weakness Delayed puberty Dry skin Oligohydramnios Triangular face Congenital contracture Multiple joint contractures Abnormal elasticity of skin Mildly elevated creatine phosphokinase Weak cry Postnatal growth retardation Overweight Follicular hyperkeratosis Generalized joint laxity Minicore myopathy Congestive heart failure Hypertonia Arthrogryposis multiplex congenita Dyspnea Dentinogenesis imperfecta Relative macrocephaly Increased susceptibility to fractures Bowing of the legs Delayed cranial suture closure Shallow orbits Thoracolumbar scoliosis Vertebral compression fractures Breech presentation Bronchiolitis Wide anterior fontanel Wide cranial sutures Multiple prenatal fractures Protrusio acetabuli Decreased calvarial ossification Absent pulmonary artery Multiple rib fractures Hypoplastic pulmonary veins Crumpled long bones Coxa vara Rhizomelia Distal muscle weakness Facial diplegia Recurrent respiratory infections Sensory impairment Progressive muscle weakness Muscle stiffness Knee flexion contracture Myopathic facies Decreased muscle mass Thoracic kyphosis Nemaline bodies Round face Distal lower limb amyotrophy Distal lower limb muscle weakness Slender build Myokymia Shoulder girdle muscle atrophy Hearing impairment Long philtrum Hydronephrosis Micromelia Reduced bone mineral density Thin ribs High pitched voice Accelerated skeletal maturation High forehead Anxiety Hypermetropia Astigmatism Everted lower lip vermilion Overgrowth Hip dislocation Coxa valga Cutis marmorata Narrow mouth Finger syndactyly Advanced eruption of teeth Polyhydramnios Skeletal muscle atrophy Inguinal hernia Clinodactyly Elevated serum creatine phosphokinase Obesity Mandibular prognathia Genu valgum Myalgia Aortic root aneurysm Enlarged joints Multiple epiphyseal dysplasia Toe walking Molar tooth sign on MRI Epiphyseal dysplasia Joint dislocation Lymphedema Thoracic scoliosis Lower limb amyotrophy Strabismus Central hypoventilation Abnormality of epiphysis morphology Sinus tachycardia Abnormality of muscle fibers Reduced systolic function Fatiguable weakness of proximal limb muscles Osteoarthritis Brain atrophy Nystagmus Malar flattening Short neck Lower limb muscle weakness Coronal craniosynostosis Anteverted nares Hypoplasia of the corpus callosum Absent speech Facial asymmetry Poor speech Joint hypermobility Inability to walk Delayed myelination Plagiocephaly Microcephaly Turricephaly Tented upper lip vermilion Broad hallux Prominent metopic ridge Facial hypotonia Abnormal hair whorl Abnormality of the orbital region Deviation of the 5th finger Cryptorchidism Visual impairment Decreased skull ossification Low-set ears Calf muscle hypertrophy Dilated cardiomyopathy Abnormal facial shape Tachycardia Fractures of the long bones Scapular winging Infantile muscular hypotonia Limb-girdle muscular dystrophy Skeletal muscle hypertrophy Narrow iliac wings Lambdoidal craniosynostosis Motor deterioration Wolff-Parkinson-White syndrome Neck flexor weakness Abnormal glycosylation Hypoglycosylation of alpha-dystroglycan Fatty replacement of skeletal muscle Moderately reduced ejection fraction Muscle fiber hypertrophy Reduced muscle fiber merosin Externally rotated/abducted legs


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