Scoliosis, and Hip dysplasia

Diseases related with Scoliosis and Hip dysplasia

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


Top matches:

High match TALL STATURE-SCOLIOSIS-MACRODACTYLY OF THE GREAT TOES SYNDROME


Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.

TALL STATURE-SCOLIOSIS-MACRODACTYLY OF THE GREAT TOES SYNDROME Is also known as tall stature-scoliosis-macrodactyly of the halluces syndrome

Related symptoms:

  • Scoliosis
  • Osteopenia
  • Arachnodactyly
  • Hip dysplasia
  • Tall stature


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-SCOLIOSIS-MACRODACTYLY OF THE GREAT TOES SYNDROME

High match HIP DYSPLASIA, BEUKES TYPE


Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.

HIP DYSPLASIA, BEUKES TYPE Is also known as cilliers-beighton syndrome|hip dysplasia, beukes type|osteoarthropathy, premature degenerative, of hip|bfhd|premature degenerative osteoarthropathy of the hip|beukes familial hip dysplasia

Related symptoms:

  • Scoliosis
  • Pain
  • Kyphosis
  • Severe short stature
  • Kyphoscoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HIP DYSPLASIA, BEUKES TYPE

High match AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME


SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).

AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME Is also known as slc35a3-cdg

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME

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Other less relevant matches:

High match MICROCEPHALIC PRIMORDIAL DWARFISM, DAUBER TYPE


Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, DAUBER TYPE

High match METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE


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

High match ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A


CDA type I is a rare inherited red blood cell disorder characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis (Tamary et al., 2005). Striking morphologic abnormalities of erythroblasts, reviewed by Wickramasinghe and Wood (2005), include the 'Swiss-cheese' abnormality of erythroblasts on electron microscopy.Four types of CDA, all of which show show ineffective erythropoiesis and multinuclear erythroblasts, have been characterized by clinical and hematopoietic findings. The classification of the first 3 types is based on that described by Wendt and Heimpel (1967). Type I is characterized by megaloblastic changes. The more common type II (OMIM ) is characterized by normocytic binuclear or multinuclear red cells, which on electron microscopy contain double cytoplasmic membranes. Type III (OMIM ), which shows autosomal dominant inheritance, has prominent erythroblastic multinuclearity forming 'gigantoblasts' with up to 12 nuclei. Type IV (OMIM ) is the designation given to a form of CDA with characteristics different from those of types I, II, and III (Wickramasinghe et al., 1991; Arnaud et al., 2010). Genetic Heterogeneity of Congenital Dyserythropoietic AnemiaCDAN1B (OMIM ) is caused by mutation in the C15ORF41 gene (OMIM ) on chromosome 15q14; CDAN2 (OMIM ) is caused by mutation in the SEC23B gene (OMIM ) on chromosome 20p11; CDAN3 (OMIM ) maps to chromosome 15q21; and CDAN4 (OMIM ) is caused by mutation in the KLF1 gene (OMIM ) on chromosome 19p13.For a possible additional form of CDA type I, see {603529}.

ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A Is also known as dyserythropoietic anemia, congenital, type ia|cda ia|anemia, congenital dyserythropoietic, type i

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Anemia
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A

High match ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS


ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS Is also known as scott-taor syndrome|sps|ischiopatellar dysplasia|patella aplasia, coxa vara, and tarsal synostosis|small patella syndrome|coxopodopatellar syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS

High match ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT


Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

High match CLASSIC MULTIMINICORE MYOPATHY


CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease|classic mmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC MULTIMINICORE MYOPATHY

Medium match SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA


SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA Is also known as amyotrophy, neurogenic scapuloperoneal, new england type

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA

Top 5 symptoms//phenotypes associated to Scoliosis and Hip dysplasia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Pes planus Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Scoliosis and Hip dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Coxa vara Abnormality of epiphysis morphology Pain Motor delay Arthrogryposis multiplex congenita

Rare Symptoms - Less than 30% cases


Global developmental delay Microcephaly Flexion contracture Intellectual disability, severe Microretrognathia Growth delay Clinodactyly Hyperlordosis Intellectual disability Carious teeth Poor head control Broad-based gait Peripheral axonal neuropathy Distal muscle weakness Areflexia Respiratory insufficiency Talipes equinovarus Hypertension Peripheral neuropathy Muscle weakness Sandal gap Seizures Delayed skeletal maturation Severe short stature Arachnodactyly Kyphosis Flat capital femoral epiphysis Unsteady gait Diaphragmatic weakness Progressive distal muscle weakness Difficulty walking Thin upper lip vermilion Camptodactyly Peroneal muscle atrophy Abnormality of the foot Dysmetria Inability to walk Abducens palsy Wide nasal bridge Sensory neuropathy Motor polyneuropathy Joint contracture of the hand Impaired vibratory sensation Sensory axonal neuropathy Myopathic facies Long nose Vocal cord paresis Lower limb muscle weakness Dysarthria Patellar hypoplasia Prominent forehead Pulmonary arterial hypertension Short chin Progressive distal muscular atrophy Tarsal synostosis Patellar dislocation Short femur Patellar aplasia Aplasia/Hypoplasia of the patella Muscle fiber splitting Iliac horns Talocalcaneal synostosis Hypoplasia of the lesser trochanter Wide capital femoral epiphyses Ataxia Amyoplasia Cognitive impairment Feeding difficulties Scapuloperoneal amyotrophy Peroneal muscle weakness Neck flexor weakness Limb muscle weakness Intermittent episodes of respiratory insufficiency due to muscle weakness Muscle fiber atrophy Dysphonia Right ventricular failure Laryngomalacia Nocturnal hypoventilation Increased muscle lipid content Limited neck flexion Weakness of facial musculature Absent muscle fiber merosin Restrictive deficit on pulmonary function testing Torticollis Scapular winging Skeletal muscle atrophy Hoarse voice Limitation of joint mobility Small hand Distal sensory impairment Hyporeflexia Facial palsy Axial muscle weakness Gowers sign Narrow nasal bridge Mandibular prognathia Motor axonal neuropathy Delayed ability to walk Metatarsus adductus Distal arthrogryposis Impaired proprioception Sensory ataxia Impaired tactile sensation Failure to thrive Congestive heart failure Mitral valve prolapse Spinal muscular atrophy Delayed gross motor development Congenital muscular dystrophy Multiple joint contractures High pitched voice Generalized amyotrophy Abnormal facial shape Stridor Spinal rigidity Right ventricular hypertrophy Cleft palate Abnormal vertebral morphology Micrognathia Absence seizures Abnormality of the epiphysis of the femoral head Abnormal ossification involving the femoral head and neck Wide proximal femoral metaphysis Muscular hypotonia Intellectual disability, mild Autism Intellectual disability, moderate Autistic behavior Camptodactyly of finger Hip dislocation Hammertoe Arthralgia of the hip Knee dislocation Atypical absence seizures Intrauterine growth retardation Obesity Hypothyroidism Postnatal growth retardation Microtia Severe global developmental delay Prominent nose Amenorrhea Irregular capital femoral epiphysis Abnormality of bone mineral density Primary amenorrhea Kyphoscoliosis Tall stature Finger clinodactyly Coxa valga Broad hallux Long fingers Slender finger Irregular vertebral endplates Long hallux Macrodactyly Proximal femoral epiphysiolysis Skeletal dysplasia Abnormal bone ossification Arthralgia Falls Overgrowth Osteoarthritis Spondyloepiphyseal dysplasia Vertebral fusion Arthropathy Avascular necrosis of the capital femoral epiphysis Broad femoral neck Shallow acetabular fossae Hypotelorism Hypoplasia of the uterus Macrocytic dyserythropoietic anemia Cholelithiasis Anemia Ventricular septal defect Edema Splenomegaly Syndactyly Jaundice Hepatosplenomegaly Small nail Hydrops fetalis Osteopenia Prolonged neonatal jaundice Metaphyseal sclerosis Macrocytic anemia Reticulocytosis Increased serum ferritin Anisocytosis Anemia of inadequate production Poikilocytosis Erythroid hyperplasia Mild postnatal growth retardation Endopolyploidy on chromosome studies of bone marrow Reduced activity of N-acetylglucosaminyltransferase II Progressive leg bowing Knee pain Central hypothyroidism Bowing of the long bones Madelung deformity Abnormality of the carpal bones Lumbar scoliosis Gait disturbance Abnormality of the dentition Genu valgum Micromelia Waddling gait Limb undergrowth Abnormality of the metaphysis Reduced bone mineral density Short lower limbs Genu varum Metaphyseal widening Bowing of the legs Short femoral neck Femoral bowing Disproportionate short stature Metaphyseal dysplasia Metaphyseal chondrodysplasia Carpal bone hypoplasia Abnormality of the head Scapular muscle atrophy



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