Scoliosis, and Toe syndactyly

Diseases related with Scoliosis and Toe syndactyly

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


Top matches:

Medium match NEVUS COMEDONICUS SYNDROME


Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by Tchernev et al., 2013).

Related symptoms:

  • Seizures
  • Microcephaly
  • Scoliosis
  • Cataract
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEVUS COMEDONICUS SYNDROME

Low match SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Low match AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME


Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.

AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME Is also known as facio-genito-popliteal syndrome|popliteal web syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Thin upper lip vermilion


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME

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Other less relevant matches:

Low match JAWAD SYNDROME


Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.

JAWAD SYNDROME Is also known as microcephaly with mental retardation and digital anomalies|kelly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Cryptorchidism
  • Intellectual disability, severe
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JAWAD SYNDROME

Low match TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER


TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Low match DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY


Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

Low match HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME


Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.

HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME Is also known as hhml

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: ORPHANET MENDELIAN

More info about HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME

Low match CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2


Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

Low match BRACHYDACTYLY, TYPE B1; BDB1


BRACHYDACTYLY, TYPE B1; BDB1 Is also known as bdb|brachydactyly, type b

Related symptoms:

  • Sensorineural hearing impairment
  • Brachydactyly
  • Ventricular septal defect
  • Syndactyly
  • Micropenis


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE B1; BDB1

Low match VAN DER WOUDE SYNDROME 1; VWS1


Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude SyndromeAlso see VWS2 (OMIM ), caused by mutation in the GRHL3 gene (OMIM ) on chromosome 1p36.

VAN DER WOUDE SYNDROME 1; VWS1 Is also known as cleft lip and/or palate with mucous cysts of lower lip|pit|lps|lip-pit syndrome|vdws

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about VAN DER WOUDE SYNDROME 1; VWS1

Top 5 symptoms//phenotypes associated to Scoliosis and Toe syndactyly

Symptoms // Phenotype % cases
Syndactyly Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Finger syndactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Clinodactyly Cryptorchidism Cleft palate Microcephaly Micrognathia Generalized hypotonia

Rare Symptoms - Less than 30% cases


Abnormality of the nail Non-midline cleft lip Bifid scrotum Scrotal hypoplasia Generalized hirsutism Abnormality of the ribs Split hand Choanal atresia Ambiguous genitalia Specific learning disability Thin upper lip vermilion Joint stiffness Nonketotic hyperglycinemia Hypoplastic labia majora Thoracolumbar scoliosis Flexion contracture Camptodactyly Vertebral fusion 2-3 toe syndactyly Abnormality of the genital system Lumbar hyperlordosis Ankyloglossia Pectus carinatum Popliteal pterygium Kyphoscoliosis Brachydactyly Anonychia Aggressive behavior Polydactyly Fibrous syngnathia Lip pit Chorea Cerebral visual impairment Ankyloblepharon Epidermal nevus Nevus Global developmental delay Abnormality of the foot Ataxia Spasticity Low-set ears High palate Delayed speech and language development Visual impairment Motor delay Poor suck Sensorimotor neuropathy Carious teeth Trismus Full cheeks Falls Hypodontia Round face Renal cell carcinoma Limited elbow extension Abnormal autonomic nervous system physiology Bifid uvula Opisthotonus Radial deviation of finger Cubitus valgus Otitis media Elbow flexion contracture Scaling skin Delayed eruption of permanent teeth Feeding difficulties in infancy Cerebral palsy Depressed nasal bridge 2-4 toe syndactyly Hyperparakeratosis Ovarian serous cystadenoma Abnormal venous morphology Hemimacroglossia Muscle weakness Pain Lower lip pit Peripheral neuropathy Protruding ear Anteverted nares Long philtrum Hyperhidrosis Carcinoma Facial palsy Apnea Pterygium Oral cleft Hyperlordosis Excessive salivation Cleft lip Unexplained fevers Aplasia/Hypoplasia of the distal phalanges of the hand Short distal phalanx of toe Hemimegalencephaly Type B brachydactyly Distal symphalangism Aplasia/Hypoplasia of the nails Proximal symphalangism of hands Absent distal phalanges Hypoplastic sacrum Distal symphalangism of hands Tarsal synostosis Aplasia/Hypoplasia of the distal phalanges of the toes Cutaneous finger syndactyly Synostosis of carpal bones Carpal synostosis Aplasia/Hypoplasia of the middle phalanges of the hand Hypoplastic fingernail Short 1st metacarpal Symphalangism affecting the phalanges of the hand Cutaneous syndactyly of toes Aplasia/Hypoplasia of the middle phalanges of the toes Absent phalangeal crease Cleft upper lip Short foot Cold-induced sweating Sensorineural hearing impairment Neurological speech impairment Absent fingernail Ventricular septal defect Micropenis Hypermetropia Short distal phalanx of finger Broad thumb Delayed cranial suture closure Wide anterior fontanel Joint contracture of the hand Hemivertebrae Difficulty walking Cutaneous syndactyly Short long bone Proximal placement of thumb Short middle phalanx of finger Respiratory distress Macrodactyly Exotropia Capillary malformation Incoordination Dysmetria Small hand Tapered finger Progressive cerebellar ataxia Epileptic encephalopathy Generalized-onset seizure Narrow forehead Diplopia Cerebellar vermis atrophy Encephalopathy Dilated fourth ventricle Intellectual disability, severe Retrognathia Single transverse palmar crease Prominent nose Sloping forehead Hallux valgus Abnormality of digit Thoracic scoliosis Gait ataxia Wide nasal bridge Congenital microcephaly Spina bifida occulta Cataract Alopecia Scarring Papule Ichthyosis Epidermal acanthosis Abnormal vertebral morphology Abnormality of the hair Spina bifida Preaxial polydactyly Dysarthria Acne Hamartoma Pustule Nevus flammeus Comedo Short stature Abnormal facial shape Ptosis Cognitive impairment Short middle phalanx of the 5th finger 4-5 toe syndactyly Abnormality of the lymphatic system Nephroblastoma Thoracic kyphoscoliosis Abnormality of brain morphology Exaggerated median tongue furrow Neoplasm Abnormality of the skeletal system Microtia Joint hypermobility Overgrowth Multiple lipomas Butterfly vertebrae Lipoatrophy Telangiectasia of the skin Foot polydactyly Enlarged kidney Megalencephaly Hydrocele testis Abnormality of the cerebral vasculature Seborrheic dermatitis Advanced eruption of teeth Hyperplasia of the maxilla Self-injurious behavior Single interphalangeal crease of fifth finger Strabismus Absent fourth finger distal interphalangeal crease Hearing impairment Nystagmus Absent speech Pectus excavatum Joint laxity Abnormality of movement Blue sclerae Rotary nystagmus Muscular hypotonia Narrow palate Myopia Optic atrophy Frontal bossing Gastroesophageal reflux Anxiety Attention deficit hyperactivity disorder Mitral regurgitation Dental crowding Stereotypy Intercrural pterygium



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