Motor delay, and Tall stature

Diseases related with Motor delay and Tall stature

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 6; SCKL6

Charcot-Marie-Tooth disease type 2R is a rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.

CHARCOT-MARIE-TOOTH DISEASE TYPE 2R Is also known as charcot-marie-tooth disease, axonal, autosomal recessive, type 2r|cmt2r|charcot-marie-tooth neuropathy, type 2r

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2R

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Other less relevant matches:

Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.

DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA Is also known as microdontia-type i microtia-deafness syndrome|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia|deafness with lamm|lamm syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA

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

Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about BAINBRIDGE-ROPERS SYNDROME; BRPS

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 type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.

CHILDHOOD-ONSET NEMALINE MYOPATHY Is also known as mild nemaline myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET NEMALINE MYOPATHY

Top 5 symptoms//phenotypes associated to Motor delay and Tall stature

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Motor delay and Tall stature. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Long face Downslanted palpebral fissures Delayed speech and language development Wide nasal bridge Hypertelorism Disproportionate tall stature Narrow face Ventriculomegaly Abnormal facial shape Slender build Strabismus Seizures Micrognathia Microcephaly Flexion contracture Pes cavus

Rare Symptoms - Less than 30% cases

Myopathy EMG: myopathic abnormalities Hernia Nemaline bodies Facial diplegia Pointed chin Neck muscle weakness Pectus excavatum Narrow mouth High forehead Everted lower lip vermilion Overgrowth Increased variability in muscle fiber diameter Growth delay Dysphagia Failure to thrive Low-set ears Respiratory insufficiency due to muscle weakness Muscle stiffness Feeding difficulties Hypoplasia of the corpus callosum Short nose Prominent forehead Waddling gait Narrow chest Open mouth Arthrogryposis multiplex congenita Muscular hypotonia Pes planus Arachnodactyly Macrocephaly Knee flexion contracture Inability to walk Frontal bossing Abnormal cranial nerve morphology Muscle weakness Areflexia Respiratory distress Autism Decreased muscle mass Respiratory insufficiency Microtia Absent speech Pneumonia Umbilical hernia Joint laxity Recurrent fractures Broad forehead Joint hypermobility Blue sclerae Bowing of the long bones Long eyelashes Wormian bones Femoral bowing Pathologic fracture Short stature Distal lower limb muscle weakness Abnormality of the dentition Myopathic facies Decreased fetal movement Lumbar hyperlordosis Frequent falls Progressive muscle weakness Muscular hypotonia of the trunk Easy fatigability Congenital muscular dystrophy Difficulty climbing stairs Shoulder girdle muscle atrophy Centrally nucleated skeletal muscle fibers Difficulty running Talipes equinovarus Thoracic kyphosis Peripheral neuropathy Distal lower limb amyotrophy Myokymia Long palpebral fissure Sensorineural hearing impairment Thin ribs Spinal rigidity Difficulty walking Limb muscle weakness Bradykinesia Clumsiness Exercise intolerance Scapular winging Mildly elevated creatine phosphokinase Fetal akinesia sequence Hyporeflexia Bulbar signs Type 1 muscle fiber predominance Breech presentation Poor fine motor coordination Reduced vital capacity Generalized limb muscle atrophy Increased muscle lipid content Fatigable weakness of bulbar muscles Polyhydramnios Cardiomyopathy Vertebral compression fractures Inguinal hernia Sensory impairment Generalized osteoporosis Thin bony cortex Biconcave vertebral bodies Short neck Cerebellar atrophy Behavioral abnormality Midface retrusion Clinodactyly of the 5th finger Ptosis Hyperactivity Micropenis Attention deficit hyperactivity disorder Wide nose Hypoplasia of penis Congenital hip dislocation Lissencephaly Large for gestational age Paralysis Pectus carinatum Generalized muscle weakness Anxiety Cochlear aplasia Aplasia of the inner ear Absent stapes Nystagmus Autistic behavior Proptosis Mandibular prognathia Hypermetropia Profound sensorineural hearing impairment Astigmatism Posteriorly rotated ears Immunodeficiency Coxa valga Accelerated skeletal maturation Cutis marmorata Long fingers Microtia, first degree Anteverted ears Epicanthus Microdontia Febrile seizures Abnormality of the pinna Synophrys Facial asymmetry Hypodontia Prominent nose Underdeveloped nasal alae Abnormality of the foot Conical tooth Widely spaced teeth Abnormality of the outer ear Delayed gross motor development Congenital sensorineural hearing impairment High hypermetropia Increased number of teeth Arachnoid cyst Skin tags Advanced eruption of teeth Cryptorchidism Falls Dyspnea Ulnar deviation of the hand Broad-based gait Polyneuropathy Hypertonia Congestive heart failure Kyphosis Respiratory failure Retrognathia Delayed ability to walk Proximal muscle weakness Facial palsy Hyperlordosis Distal muscle weakness Hearing impairment Muscular dystrophy Peripheral axonal neuropathy Severe postnatal growth retardation Hammertoe Myopia Wide mouth Anteverted nares Vocal cord paralysis Tracheomalacia Decreased number of peripheral myelinated nerve fibers Upslanted palpebral fissure Axonal degeneration Postnatal growth retardation Prominent nasal bridge Hypoplasia of the brainstem Severe global developmental delay Bulbous nose Highly arched eyebrow Broad nasal tip Decreased motor nerve conduction velocity Dental crowding Short chin Trigonocephaly Neuromuscular dysphagia


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