Motor delay, and Skeletal dysplasia

Diseases related with Motor delay and Skeletal dysplasia

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

Top matches:

METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE Is also known as metaphyseal chondrodysplasia, spahr type

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Motor delay
  • Gait disturbance


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE

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

Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C Is also known as hmsn iic|charcot-marie-tooth neuropathy, type 2c|charcot-marie-tooth disease, axonal, autosomal dominant, type 2c|cmt2c

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME Is also known as cagsss

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME

PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME Is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

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 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia

Related symptoms:

  • Short stature
  • Cleft palate
  • Delayed speech and language development
  • Motor delay
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

Top 5 symptoms//phenotypes associated to Motor delay and Skeletal dysplasia

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Hip dislocation Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Platyspondyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Motor delay and Skeletal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Coxa vara Flexion contracture Intellectual disability Hypertelorism Abnormality of the skeletal system Macrocephaly Hearing impairment Pectus excavatum Abnormal facial shape Low-set ears Congenital hip dislocation Generalized hypotonia Short neck Ptosis Malar flattening Craniosynostosis Severe short stature Kyphosis Delayed skeletal maturation Respiratory insufficiency Hyperlordosis Genu valgum Cleft palate Limb undergrowth Hyporeflexia Abnormality of epiphysis morphology

Rare Symptoms - Less than 30% cases

Sensorimotor neuropathy Areflexia Hoarse voice Distal sensory impairment Bilateral sensorineural hearing impairment Respiratory distress Sensory neuropathy Talipes equinovarus Skeletal muscle atrophy Growth delay Osteopenia Cognitive impairment Delayed epiphyseal ossification Brachydactyly Conductive hearing impairment Kyphoscoliosis Brachycephaly Midface retrusion Micrognathia Tented upper lip vermilion Increased body weight Epicanthus Delayed speech and language development Microcephaly Multiple skeletal anomalies Spondyloepiphyseal dysplasia Cataract Nystagmus Peripheral neuropathy Short nose Muscle weakness Osteoarthritis Micromelia Sensorineural hearing impairment Hip dysplasia Abnormality of the metaphysis Pain Short femoral neck Femoral bowing Disproportionate short stature Metaphyseal dysplasia Inguinal hernia Pectus carinatum Gait disturbance Joint dislocation Strabismus Epiphyseal dysplasia Enlarged joints Hypoplasia of the epiglottis Erythroderma Eosinophilia Coxa valga Lymphopenia Lateral clavicle hook Progressive microcephaly Opisthotonus Pancreatic fibrosis Inflammatory abnormality of the skin Generalized-onset seizure Prominent nose Combined immunodeficiency Neurodevelopmental delay Full cheeks Dislocated radial head Severe combined immunodeficiency Hepatic cysts Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Narrow greater sacrosciatic notches Cervical instability Severe platyspondyly Myopia Depressivity Glaucoma Proptosis Retrognathia Umbilical hernia Decreased antibody level in blood Single transverse palmar crease Broad nasal tip Gowers sign Blepharophimosis Arthrogryposis multiplex congenita Abnormality of the foot Talipes Postaxial polysyndactyly of foot Long face Downturned corners of mouth Generalized muscle weakness Narrow forehead Short palpebral fissure Open mouth Polysyndactyly of hallux Congenital contracture Myopathic facies Retinopathy Ankle contracture Malignant hyperthermia Restrictive deficit on pulmonary function testing Seizures Global developmental delay Muscular hypotonia Hyperreflexia Shortening of the tibia Immunodeficiency Recurrent infections Coarse facial features Abnormality of the nervous system Muscular hypotonia of the trunk Anal atresia Joint stiffness Retinal detachment Spondylometaphyseal dysplasia Abnormality of the genital system Cleft lip Hypermetropia Narrow chest Astigmatism Oral cleft Cleft upper lip Pulmonary hypoplasia Retinal dystrophy Renal cyst Intestinal malrotation Postaxial hand polydactyly Ambiguous genitalia Cerebellar vermis hypoplasia Pachygyria Hydrops fetalis Polydactyly Hepatic fibrosis Short ribs Horizontal ribs Polycystic kidney dysplasia Tricuspid regurgitation Preaxial hand polydactyly Mesomelia Median cleft lip Median cleft lip and palate Microglossia Short tibia Thoracic dysplasia Dilation of lateral ventricles Abnormality of the larynx Micropenis Abnormal heart morphology Round face Tracheal stenosis High myopia Recurrent otitis media Rhizomelia Ectopia lentis Neonatal respiratory distress Facial palsy Short thorax Chorioretinal atrophy Arthropathy Hip contracture Tracheomalacia Glossoptosis Bell-shaped thorax Vitreoretinopathy Hypoplastic pelvis Edema Splayed epiphyses Atrial septal defect Hydrocephalus Ventricular septal defect Abnormal cartilage collagen Flattened, squared-off epiphyses of tubular bones Hamartoma of tongue Lumbar kyphoscoliosis Disproportionate short-trunk short stature Dumbbell-shaped long bone Rhegmatogenous retinal detachment Lens luxation Enlarged thorax Coronal cleft vertebrae Hypoplastic ilia Flared metaphysis Ventriculomegaly Telecanthus Obesity Hand muscle weakness Oculomotor nerve palsy Inspiratory stridor Progressive peripheral neuropathy Abducens palsy Shoulder girdle muscle atrophy Diaphragmatic weakness Vocal cord paresis Hand muscle atrophy Bilateral vocal cord paralysis Intercostal muscle weakness Decreased distal sensory nerve action potential Bilateral vocal cord paresis Clinodactyly Anemia Down-sloping shoulders Frontal bossing Anteverted nares Cardiomyopathy Dilatation Elevated serum creatine phosphokinase Constipation Hypothyroidism Joint laxity Intellectual disability, moderate Dry skin Flat face Delayed eruption of teeth Macroglossia Broad-based gait Vocal cord paralysis Obstructive sleep apnea Clumsiness Distal amyotrophy Ataxia Fatigue Multiple epiphyseal dysplasia Molar tooth sign on MRI Pes cavus Respiratory failure Lymphedema Difficulty walking Apnea Paralysis Distal muscle weakness Dolichocephaly Limb muscle weakness Peripheral axonal neuropathy Brain atrophy Wheezing Polyneuropathy Urinary incontinence Finger syndactyly Tetraparesis Polyhydramnios Foot dorsiflexor weakness Agenesis of corpus callosum Knee flexion contracture Sleep apnea Dysphonia Spinal muscular atrophy Stridor Hammertoe Urinary urgency Omphalocele Progressive leg bowing Proximal muscle weakness Narrow pelvis bone Genu varum Microtia Reduced bone mineral density Short palm Thick vermilion border Short metacarpal Bowing of the long bones Rocker bottom foot Overlapping toe Slender long bone Thoracolumbar scoliosis Beaking of vertebral bodies Spondyloepimetaphyseal dysplasia Small epiphyses Short fourth metatarsal Autism Proximal femoral epiphysiolysis Skull asymmetry Thoracic platyspondyly Distal femoral bowing Waddling gait Cryptorchidism High palate Feeding difficulties Fever Downslanted palpebral fissures Myopathy Carious teeth Pes planus Abnormality of the dentition Autistic behavior Metaphyseal widening Wormian bones Congenital cataract Hypercholesterolemia Relative macrocephaly Congenital hypothyroidism Drowsiness Long thorax Thyroid hormone receptor defect No permanent dentition Increased T3/T4 ratio Metaphyseal sclerosis Knee pain Long philtrum Prominent forehead Narrow mouth Short lower limbs Thick eyebrow Bowing of the legs Sensory impairment Growth hormone deficiency Abnormality of the head Progressive sensorineural hearing impairment Spinal canal stenosis Achalasia Fasting hypoglycemia Prelingual sensorineural hearing impairment Thoracic kyphoscoliosis Carpal bone hypoplasia Cervical spinal canal stenosis Periarticular subcutaneous nodules Metaphyseal chondrodysplasia Failure to thrive Disproportionate shortening of the tibia


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