Scoliosis, and Craniosynostosis

Diseases related with Scoliosis and Craniosynostosis

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


Top matches:

Low match CRANIOSYNOSTOSIS 6; CRS6


Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 6; CRS6

Low match AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME


Autosomal dominant multiple pterygium syndrome is a rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.

AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME Is also known as distal arthrogryposis type 8|multiple pterygium syndrome, autosomal dominant|pterygium syndrome, multiple, autosomal dominant

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Ptosis
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION


Related symptoms:

  • Scoliosis
  • Ptosis
  • Epicanthus
  • Macrotia
  • Umbilical hernia


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION

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Other less relevant matches:

Low match HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR


Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH ), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997).See also hypophosphatemic bone disease (OMIM ). Genetic Heterogeneity of Hypophosphatemic RicketsOther forms of hypophosphatemic rickets include an autosomal recessive forms, i.e., ARHR1 (OMIM ), caused by mutation in the DMP1 gene (OMIM ) on chromosome 4q21, and ARHR2 (OMIM ), caused by mutation in the ENPP1 gene (OMIM ) on chromosome 6q22-q23. An X-linked dominant form (OMIM ) is caused by mutation in the PHEX gene (OMIM ), and an X-linked recessive form (OMIM ) is caused by mutation in the CLCN5 gene (OMIM ). Clinical Variability of Hypophosphatemic RicketsHypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, {264700}). A form of hypophosphatemic rickets with hypercalciuria (HHRH ) is caused by mutation in the SLC34A3 gene (OMIM ), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (OMIM ) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO ).

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR Is also known as vitamin d-resistant rickets, autosomal dominant|hypophosphatemia, autosomal dominant

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

Low match CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME


Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.

CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME Is also known as catshl syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME

Low match SECKEL SYNDROME


Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

Low match 3MC SYNDROME


3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.

3MC SYNDROME Is also known as craniofacial-ulnar-renal syndrome|malpuech-michels-mingarelli-carnevale syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about 3MC SYNDROME

Low match 5P13 MICRODUPLICATION SYNDROME


5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

Low match NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA


Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.

NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA Is also known as amc, neurogenic type

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Flexion contracture
  • Skeletal muscle atrophy
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA

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 Scoliosis and Craniosynostosis

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Hypertelorism Low-set ears Muscular hypotonia Microcephaly Downslanted palpebral fissures Micrognathia

Rare Symptoms - Less than 30% cases


Strabismus Dolichocephaly Hip dislocation Micromelia Short nose Hypercalciuria Abnormality of the lower limb High palate Camptodactyly of finger Frontal bossing Arachnodactyly Bilateral sensorineural hearing impairment Epicanthus Macrocephaly Intrauterine growth retardation Delayed skeletal maturation Abnormal facial shape Generalized hypotonia Hip dysplasia Bilateral cryptorchidism Postnatal growth retardation Umbilical hernia Blepharophimosis Arthrogryposis multiplex congenita Agenesis of corpus callosum Plagiocephaly Brachycephaly Camptodactyly Pectus excavatum Spina bifida occulta Elbow flexion contracture Turricephaly Cleft palate Flexion contracture Sleep disturbance Bulbous nose Astigmatism Small for gestational age Broad forehead Short long bone Short philtrum Sparse hair Proptosis Upslanted palpebral fissure Narrow forehead Hypercalcemia Respiratory tract infection Wide nasal bridge Epiphyseal dysplasia Abnormal anterior chamber morphology Oral cleft Metaphyseal cupping Downturned corners of mouth Highly arched eyebrow Adrenal hypoplasia Radioulnar synostosis Supernumerary nipple Diastasis recti Abnormal nasal morphology Adrenal insufficiency Epicanthus inversus Caudal appendage Large fleshy ears Limited pronation/supination of forearm Prominent coccyx Seizures Primary adrenal insufficiency Metaphyseal dysplasia Low posterior hairline Hypotelorism Stereotypy Short palpebral fissure Growth hormone deficiency Maternal diabetes Abnormality of the upper limb Intestinal atresia Skin dimples Abnormality of the shoulder Gastric ulcer Congenital muscular torticollis Abnormality of calvarial morphology Abnormality of mesentery morphology Abnormality of the hip bone Muscular dystrophy Growth delay Cryptorchidism Depressed nasal bridge Hypospadias Prominent forehead Hypogonadism Micropenis Aplasia/Hypoplasia of the radius Multiple joint contractures Nephrocalcinosis Skeletal muscle atrophy Hydronephrosis Exotropia Obsessive-compulsive behavior Large hands Long fingers Overweight Hypocalcemia Long foot Talipes equinovarus Hemiplegia/hemiparesis Myopathy Abnormality of cardiovascular system morphology Hernia Joint stiffness Abnormality of the genital system Round face Oligohydramnios Congenital contracture Rocker bottom foot Facial asymmetry Joint hyperflexibility Abnormality of the pinna Hemihypertrophy Macrotia Vesicoureteral reflux Overgrowth Large for gestational age Neonatal hypoglycemia Multiple renal cysts Fragile nails Hyperinsulinemic hypoglycemia Deep palmar crease Spondylolisthesis Moderate global developmental delay Abdominal wall muscle weakness Deep-set nails Abnormality of the hairline Abnormality of the palpebral fissures Pain Fatigue Abnormality of the dentition Multiple pterygia Distal arthrogryposis Carious teeth Short neck Ventriculomegaly Cerebellar atrophy High forehead Dandy-Walker malformation Low anterior hairline Spina bifida Delayed cranial suture closure Anterior plagiocephaly Syndactyly Hip contracture Low-set, posteriorly rotated ears Knee flexion contracture Hemivertebrae Cutaneous syndactyly Abnormal palate morphology Pterygium Nasal speech Vertebral fusion Arthritis Genu valgum Hyperlordosis Abnormality of dental enamel Abnormality of lower limb joint Broad femoral metaphyses Cognitive impairment Clinodactyly of the 5th finger Glaucoma Convex nasal ridge Sparse scalp hair Narrow face Sandal gap Osteochondroma Reduced number of teeth Cachexia Cone-shaped epiphysis Prematurely aged appearance Mild global developmental delay Abnormality of earlobe Absent earlobe Telecanthus Increased vertebral height Camptodactyly of toe Delayed eruption of teeth Hyperparathyroidism Muscle cramps Generalized muscle weakness Bone pain Coxa vara Elevated alkaline phosphatase Rickets Bowing of the legs Hypophosphatemia Osteomalacia Ectopia lentis Spinal canal stenosis Hypophosphatemic rickets Renal phosphate wasting Cataract Myopia High myopia Interphalangeal joint contracture of finger Tall stature Joint contracture of the hand Congenital adrenal hypoplasia



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