Spasticity, and Micromelia

Diseases related with Spasticity and Micromelia

In the following list you will find some of the most common rare diseases related to Spasticity and Micromelia that can help you solving undiagnosed cases.


Top matches:

Medium match SPONDYLOENCHONDRODYSPLASIA


Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.

SPONDYLOENCHONDRODYSPLASIA Is also known as spencd|spondylometaphyseal dysplasia with enchondromatous changes|spondyloenchondromatosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Abnormality of the dentition
  • Kyphosis
  • Kyphoscoliosis


SOURCES: MESH ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA

Medium match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Medium match DESMOSTEROLOSIS


Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DESMOSTEROLOSIS

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Other less relevant matches:

Medium match ACROCEPHALOPOLYDACTYLOUS DYSPLASIA


Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

Medium match NEU-LAXOVA SYNDROME


Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

NEU-LAXOVA SYNDROME Is also known as neu-laxova syndrome|3-phosphoglycerate dehydrogenase deficiency, neonatal form|nls

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME

Low match SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19


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 with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Low-set ears
  • Brachydactyly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19

Low 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

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

Low match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III


Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Low match AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE


Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.

AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE Is also known as chondrodysplasia, megarbane-dagher-melki type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE

Low match IMAGE SYNDROME


IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Top 5 symptoms//phenotypes associated to Spasticity and Micromelia

Symptoms // Phenotype % cases
Low-set ears Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Short neck Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Spasticity and Micromelia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Limb undergrowth Depressed nasal bridge Intrauterine growth retardation Cleft palate Delayed skeletal maturation Brachydactyly Short nose Short stature Generalized hypotonia Syndactyly Abnormal facial shape Prominent forehead Postnatal growth retardation Platyspondyly Submucous cleft hard palate Pachygyria Ventricular septal defect Cryptorchidism Flexion contracture Cerebral calcification Strabismus Agenesis of corpus callosum Micrognathia Abnormality of the pinna Pulmonary hypoplasia Muscle stiffness Respiratory failure Polydactyly Cerebellar hypoplasia Microcephaly Seizures Lissencephaly Muscular hypotonia Hypertelorism Proptosis Hypogonadism Epicanthus Anteverted nares Retrognathia Rigidity Spondylometaphyseal dysplasia Abnormality of the skeletal system Polymicrogyria Rhizomelia Bifid uvula Respiratory insufficiency Severe short stature Prominent occiput Frontal bossing Abnormal cortical gyration

Rare Symptoms - Less than 30% cases


Small for gestational age Renal agenesis Toe syndactyly Arthrogryposis multiplex congenita Delayed epiphyseal ossification Joint contracture of the hand Short long bone Microtia Metaphyseal cupping Relative macrocephaly Abnormality of neuronal migration Ambiguous genitalia Status epilepticus Partial agenesis of the corpus callosum Muscular hypotonia of the trunk Edema Absent septum pellucidum Muscular dystrophy Hypoplastic ilia Fine hair Hearing impairment Short ribs Narrow chest Dolichocephaly Long philtrum Severe intrauterine growth retardation Osteomalacia Bilateral cryptorchidism Large hands Rickets Sloping forehead Thick vermilion border Cleft lip Macrogyria Polyhydramnios Hydronephrosis Myopia Optic atrophy Micropenis Single transverse palmar crease Abnormality of cardiovascular system morphology Craniosynostosis Sensorineural hearing impairment Postaxial polydactyly Renal hypoplasia Depressed nasal ridge Abnormality of the cerebellar vermis Scoliosis Osteoporosis Specific learning disability Osteopenia Posteriorly rotated ears Macrocephaly Abnormality of the metaphysis Lumbar hyperlordosis Progressive spastic quadriplegia Skeletal dysplasia Hypothyroidism Hyperlordosis Recurrent respiratory infections Kyphosis Large iliac wings Abnormal form of the vertebral bodies Nystagmus Failure to thrive Kyphoscoliosis Downslanted palpebral fissures Hypoplasia of the corpus callosum Patent ductus arteriosus Clinodactyly Hypertonia Talipes equinovarus Clinodactyly of the 5th finger Respiratory tract infection Ventriculomegaly Cerebellar vermis hypoplasia Bowing of the long bones Dyspnea Absence seizures Abnormality of the nervous system Short thumb Abnormality of the kidney Apnea Sparse hair Delayed eruption of teeth Short chin Corneal opacity Knee flexion contracture Bilateral single transverse palmar creases Hip dislocation Hypotrichosis Hypsarrhythmia Dry skin Bulbous nose Short palm Sparse and thin eyebrow Elbow flexion contracture Heterotopia Delayed myelination Premature birth Prominent nose Short metacarpal Sparse scalp hair Tetralogy of Fallot Oligohydramnios Coarctation of aorta Renal cyst Abnormality of epiphysis morphology Hyperkeratosis Brachycephaly Thin vermilion border Long face Facial asymmetry Hypermetropia Abnormality of the tibial metaphysis Reduced visual acuity Metaphyseal enchondromatosis Small hand Blindness Horizontal ribs Lateral clavicle hook Abnormality of radial metaphyses Thoracic dysplasia Thoracic hypoplasia Hypoplasia of the radius Thick eyebrow Abnormality of ulnar metaphysis Glaucoma Nonprogressive visual loss Alopecia Cerebral atrophy Malar flattening Atrial septal defect Fever Cognitive impairment Sacral dimple Hyposegmentation of neutrophil nuclei Progressive visual loss Blue cone monochromacy Prominent glabella Achromatopsia Dyschromatopsia Cutis laxa Sandal gap Narrow forehead Sparse eyelashes Hydroureter Abnormality of the metacarpal bones Round face Deep philtrum Tachypnea Wormian bones Wide anterior fontanel Large fontanelles Pulmonary arterial hypertension Cardiomegaly Wide nose Bell-shaped thorax Dilatation Congestive heart failure Hypertension Bifid first metacarpal Cleft vertebral arch Absent knee epiphyses Enlarged metaphyses Bowed humerus Hypokinesia Abnormality of the dentition Abnormality of the tragus Nephrocalcinosis Adrenal hypoplasia Primary adrenal insufficiency Metaphyseal dysplasia Adrenal insufficiency Epiphyseal dysplasia Hypercalcemia Hypercalciuria Hypocalcemia Hypoplastic ischia Abnormality of the genital system Bilateral sensorineural hearing impairment Growth hormone deficiency Hypospadias Iliac crest serration Dysplastic sacrum Severe platyspondyly Squared iliac bones Bifid femur Shoulder flexion contracture Abnormality of the urinary system Disproportionate short stature Abnormality of finger Thickened nuchal skin fold Arachnoid cyst Epileptic spasms Hip contracture Short humerus Broad palm Prolonged neonatal jaundice Long foot Long nose Cortical gyral simplification Femoral bowing Oral cleft Multiple joint contractures Diabetes insipidus Elbow dislocation Preaxial polydactyly Flat acetabular roof Short femur Abnormality of the pubic bone Central hypothyroidism Abnormality of the distal phalanx of finger Loss of eyelashes Abnormality of calcium-phosphate metabolism Aplasia/hypoplasia of the femur Small anterior fontanelle Hypoplasia of the frontal lobes Abnormality of the intervertebral disk Abnormally ossified vertebrae Long clavicles 11 pairs of ribs Aplastic clavicle Tethered cord Broad distal phalanx of finger Abnormality of the upper urinary tract Thin eyebrow Colpocephaly Profound global developmental delay Agenesis of cerebellar vermis Anemia Type III lissencephaly Diarrhea Autoimmune hemolytic anemia Spastic diplegia Combined immunodeficiency Restrictive ventilatory defect Hypermelanotic macule Scleroderma Upslanted palpebral fissure Basal ganglia calcification Recurrent sinusitis Metaphyseal irregularity Autoimmune thrombocytopenia Tremor Vitiligo Irregular vertebral endplates Narrow nose Hepatomegaly Barrel-shaped chest Anal atresia Rheumatoid arthritis Ataxia Hepatic fibrosis Cystic hygroma Macular dystrophy Premature graying of hair Redundant skin Hemivertebrae Multicystic kidney dysplasia Hydrops fetalis Thickened skin Hypopigmentation of the skin Abnormality of the face Renal dysplasia Omphalocele Encephalitis Systemic lupus erythematosus Postaxial hand polydactyly Nephritis Ascites Juvenile rheumatoid arthritis 2-4 toe syndactyly Protuberant abdomen Finger clinodactyly Cupped ear Dermal atrophy Arthralgia/arthritis Renal hypoplasia/aplasia Aplasia/Hypoplasia of the corpus callosum Hypopigmented skin patches on arms Microretrognathia Increased bone mineral density Metaphyseal sclerosis Feeding difficulties Intestinal malrotation Hydrocephalus Talipes Splenomegaly Low-set, posteriorly rotated ears Telecanthus Narrow mouth Metatarsus adductus Bilateral talipes equinovarus Hypoplastic nasal bridge Gingival fibromatosis Alveolar ridge overgrowth Abnormality of cholesterol metabolism Immune dysregulation Ambiguous genitalia, female Total anomalous pulmonary venous return Abnormality of earlobe Ambiguous genitalia, male Anomalous pulmonary venous return Madelung deformity Generalized osteosclerosis Abnormality of the nose Cellular immunodeficiency Large earlobe Osteopetrosis Tubulointerstitial fibrosis Decrease in T cell count Aplasia/Hypoplasia of the skin Generalized hyperpigmentation Enlarged kidney Intellectual disability, mild External genital hypoplasia Abnormal eyelid morphology Broad foot Absent eyelashes Abnormality of the mouth Pneumonia Abnormal eyelash morphology Transposition of the great arteries Opisthotonus Lack of skin elasticity Rocker bottom foot Radial deviation of finger Arthralgia Ectropion Arthritis Patent foramen ovale Pterygium Spina bifida Trismus Generalized edema Thick lower lip vermilion Ablepharon Midface retrusion Immunodeficiency Respiratory distress Recurrent infections Thrombocytopenia Yellow subcutaneous tissue covered by thin, scaly skin Abnormality of limbs Short umbilical cord Abnormality of nervous system morphology Small placenta Aplasia/Hypoplasia involving the skeletal musculature Choroid plexus cyst Bifid uterus Abnormal nasolacrimal system morphology Abnormality of the philtrum Calcaneovalgus deformity Hydranencephaly Abnormality of the hair Decreased fetal movement Broad neck Aplasia/Hypoplasia of the macula High palate Abnormal lung morphology Cataract Recurrent bacterial infections Extrapulmonary sequestrum Hypoplastic colon Hypoplasia of the small intestine Cerebral cortical hemiatrophy Recurrent otitis media Pancreatic fibrosis Purpura Lymphangioma Subcortical cerebral atrophy Oxycephaly Cystic renal dysplasia Rib fusion Polysplenia Skeletal muscle atrophy Microphthalmia Dandy-Walker malformation Abnormality of the cerebral white matter Abnormality of the skin Ectodermal dysplasia Muscle cramps Everted lower lip vermilion Autoimmunity Cleft upper lip Ichthyosis Finger syndactyly Spastic tetraplegia Abnormal cardiac septum morphology Wide mouth Camptodactyly Lymphadenopathy Hemolytic anemia Macrotia Tetraplegia Hepatitis Congenital adrenal hypoplasia



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