Immunodeficiency, and Joint hypermobility

Diseases related with Immunodeficiency and Joint hypermobility

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


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Low match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT


Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

Low match TIMOTHY SYNDROME


Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Low match DESBUQUOIS DYSPLASIA 1; DBQD1


Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

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Other less relevant matches:

Low match DISTAL 22Q11.2 MICRODELETION SYNDROME


Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2)|distal monosomy 22q11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DISTAL 22Q11.2 MICRODELETION SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE


X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Low match 15Q24 MICRODELETION SYNDROME


15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

Low match CAYLER CARDIOFACIAL SYNDROME


CAYLER CARDIOFACIAL SYNDROME Is also known as depressor anguli oris muscle, hypoplasia of|facial paresis, partial, unilateral|asymmetric crying facies|acf

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CAYLER CARDIOFACIAL SYNDROME

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Low match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Immunodeficiency and Joint hypermobility

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Immunodeficiency and Joint hypermobility. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Intrauterine growth retardation

Common Symptoms - More than 50% cases


Joint hyperflexibility

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Narrow mouth Micrognathia Growth delay Short palm Toe syndactyly Epicanthus Sandal gap Microcephaly Depressed nasal bridge Inguinal hernia Recurrent infections Wide nasal bridge Generalized hypotonia Ventricular septal defect Behavioral abnormality Abnormality of cardiovascular system morphology Depressivity Low-set ears Autism Failure to thrive Myopia Downslanted palpebral fissures Motor delay Bowing of the long bones Long face Arachnodactyly Prominent nasal bridge Attention deficit hyperactivity disorder Atrial septal defect Neoplasm Smooth philtrum Brachydactyly Hyperlordosis Joint laxity Pes planus Obesity Dilatation Short neck Malar flattening Hearing impairment Constipation Facial asymmetry Deeply set eye High palate Strabismus Macrocephaly Abnormality of the dentition Intellectual disability, mild Obsessive-compulsive behavior Hypothyroidism Thick lower lip vermilion Thin upper lip vermilion High, narrow palate Highly arched eyebrow Interphalangeal joint contracture of finger Underdeveloped nasal alae Hypocalcemia Anteverted nares Small hand Polymicrogyria Pointed chin Tetralogy of Fallot Bowel incontinence Hypospadias Truncus arteriosus Tics Short distal phalanx of finger Abnormality of earlobe Delayed speech and language development Choanal atresia Patent ductus arteriosus Lymphoma Clinodactyly of the 5th finger Coxa valga Pneumonia High forehead Cleft palate Cryptorchidism Prominent forehead Blepharophimosis Camptodactyly of finger Kyphosis Cognitive impairment

Rare Symptoms - Less than 30% cases


Abnormality of the skeletal system Ulnar deviation of finger Genu varum Disproportionate short-limb short stature Microretrognathia Ankyloglossia Language impairment Rhizomelia Absent toenail Absent fingernail Branchial fistula Broad thumb Metaphyseal widening Pyloric stenosis Cystic hygroma Aortic aneurysm Dysphagia Aortic regurgitation Oculomotor apraxia Generalized joint laxity Aganglionic megacolon Gastrointestinal hemorrhage Coarse facial features Premature birth Osteopenia Sensorineural hearing impairment Mandibular prognathia Osteoporosis Recurrent urinary tract infections Leukemia Skeletal muscle atrophy Hand polydactyly Feeding difficulties in infancy Fine hair Cellular immunodeficiency Cafe-au-lait spot Sparse and thin eyebrow Abnormality of the uterus Nasal speech Abnormality of the thorax Cupped ear Hodgkin lymphoma Hyperthyroidism Vesicoureteral reflux Macrotia Renal hypoplasia Spina bifida Hypopigmented skin patches Hemangioma Neoplasm of the skin Lymphopenia Cataract Hydrocephalus Diarrhea Decreased antibody level in blood Carcinoma Low-set, posteriorly rotated ears Polyhydramnios Frontal bossing Intellectual disability, moderate Tremor Ventriculomegaly Hypoplasia of the corpus callosum Intellectual disability, severe Hypertonia Pes cavus Hypogonadism Hyperactivity Micropenis EEG abnormality Aggressive behavior Short philtrum Upslanted palpebral fissure Bulbous nose Macroglossia Thrombocytopenia Splenomegaly Intention tremor Short thumb Gynecomastia Scaphocephaly Small earlobe Long philtrum Microphthalmia Hernia Depressed nasal ridge Recurrent respiratory infections Autistic behavior Glaucoma Asthma Hypoplasia of the maxilla Abnormal heart morphology Wide nose Clinodactyly Severe short stature Skeletal dysplasia Short nose Round face Myopathy Chronic otitis media Squamous cell carcinoma Bronchitis Abnormality of dental enamel Abnormality of the kidney Arthritis Postnatal growth retardation Micromelia Sinusitis Carious teeth Prominent nose Talipes equinovarus Narrow chest Gastroesophageal reflux Abnormal cardiac septum morphology Hip dislocation Papilloma Meningocele Bone cyst Colonic diverticula Abnormality of the skull Varicose veins Adenoma sebaceum Abnormal eyelid morphology Neoplasm of the central nervous system Decreased proportion of CD4-positive T cells Enlarged polycystic ovaries Generalized hyperkeratosis Fibroma Hamartomatous polyposis Cavernous hemangioma Abnormality of the penis Long penis Subcutaneous lipoma Multiple renal cysts Angioid streaks of the fundus Pseudopapilledema Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Posterior embryotoxon Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Progressive macrocephaly Ovarian carcinoma Colorectal polyposis Endometrial carcinoma Abnormal lung lobation Follicular thyroid carcinoma Bipolar affective disorder Turricephaly Hypoparathyroidism Patellar dislocation Varicocele Ovarian cyst Thyroid adenoma Intestinal polyp Intestinal polyposis Tetany Astrocytoma Cranial nerve paralysis Incoordination Palmoplantar hyperkeratosis Goiter Breast carcinoma Abnormality of the pharynx Platybasia Melanoma Arrhinencephaly Impaired T cell function Increased intracranial pressure Abnormal pulmonary valve morphology Drooling Anorectal anomaly Dysdiadochokinesis Retinal arteriolar tortuosity Exotropia Chronic diarrhea Telangiectasia Subcutaneous nodule Overgrowth Hypertensive crisis Abnormal aortic arch morphology Multiple suture craniosynostosis Tricuspid atresia Abnormal cerebellum morphology Palmoplantar keratoderma Abnormality of the tonsils Abnormal aortic valve morphology Intracranial hemorrhage Atelectasis Hashimoto thyroiditis Chronic obstructive pulmonary disease Furrowed tongue Corneal neovascularization Arteriovenous malformation Merkel cell skin cancer Hydrocele testis Meningioma Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Lipoma Renal cell carcinoma Abnormal thrombocyte morphology Hypoplasia of the thymus Thyroiditis Ovarian neoplasm Seborrheic dermatitis Hamartoma Acute myeloid leukemia Multiple cafe-au-lait spots Cellulitis Multiple lipomas Abnormality of the thyroid gland Macule Cutis marmorata Melanocytic nevus Ductal carcinoma in situ B-cell lymphoma Multiple trichilemmomata Abnormality of chromosome stability Abnormality of pelvic girdle bone morphology Sacral dimple Reduced tendon reflexes Abnormal palate morphology Accelerated skeletal maturation Sparse eyelashes Short ribs Gingival overgrowth Abnormality of retinal pigmentation Abnormality of epiphysis morphology Bronchiectasis Abnormal form of the vertebral bodies Cone-shaped epiphysis Abnormality of the metaphysis Blue sclerae Lumbar hyperlordosis Abnormality of the ribs Convex nasal ridge Bronchiolitis Diaphyseal thickening Abnormal diaphysis morphology Mucopolysacchariduria Nausea and vomiting Normocytic anemia Hypersplenism Portal hypertension Short thorax Spinal dysraphism Aplasia/Hypoplasia of the abdominal wall musculature Tracheal stenosis Fair hair Heart block Upper limb undergrowth Overweight Thrombocytosis Aplastic anemia Exocrine pancreatic insufficiency Distal arthrogryposis Abnormality of the pancreas Esophageal atresia Hypoplasia of the odontoid process Mesomelia Anal stenosis Aplasia/Hypoplasia affecting the eye Metaphyseal chondrodysplasia Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Tibial bowing Metaphyseal cupping Basal cell carcinoma Limited elbow extension Femoral bowing Large face Congenital hypoplastic anemia Lobular carcinoma in situ Sparse hair Neutropenia Specific learning disability Purpura Schizophrenia Malabsorption Laryngomalacia Polycystic kidney dysplasia Hypotrichosis Arthrogryposis multiplex congenita Cholelithiasis Pectus carinatum Brachycephaly Anal atresia Overfolded helix Acne Alopecia Delayed skeletal maturation Dysphasia Cardiomyopathy Foot polydactyly Respiratory insufficiency Hepatomegaly Hypertension Visual impairment Anemia Intestinal malrotation Hypopigmentation of the skin Neonatal short-limb short stature Biconvex vertebral bodies Abnormal bone ossification Abnormally ossified vertebrae Hypoplastic anemia Abnormal T cell morphology Abnormality of the distal phalanx of finger Narrow vertebral interpedicular distance Long fibula Non-Hodgkin lymphoma Metaphyseal dysostosis Impaired lymphocyte transformation with phytohemagglutinin Sparse facial hair Severe T-cell immunodeficiency Abnormality of humoral immunity Autoimmunity Absent pubertal growth spurt Flaring of lower rib cage Susceptibility to chickenpox Pulmonary lymphoma Ptosis Optic atrophy Umbilical hernia Conductive hearing impairment Myalgia Postural instability Anxiety Telecanthus Increased IgE level Congenital diaphragmatic hernia Papule Respiratory distress Craniosynostosis Platyspondyly Joint stiffness Skin rash Cough Pruritus Kyphoscoliosis Proptosis Respiratory failure Midface retrusion Recurrent fractures Edema Otitis media Renal cyst Eczema Inflammatory abnormality of the skin Skin ulcer Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Biventricular hypertrophy Cutaneous syndactyly of toes Torsade de pointes Perimembranous ventricular septal defect Flat face Abdominal distention Amelogenesis imperfecta Protuberant abdomen Advanced ossification of carpal bones Long upper lip Vertebral clefting Hypoplastic vertebral bodies Flattened epiphysis Open angle glaucoma Broad femoral neck Coronal cleft vertebrae Generalized osteoporosis Short 1st metacarpal Flat acetabular roof Irregular vertebral endplates Congenital glaucoma Short metacarpal Thoracic hypoplasia Short femoral neck Abnormality of the hand Short metatarsal Coxa vara Joint dislocation Horseshoe kidney Erythema Osteoarthritis Wide intermamillary distance Nail dysplasia Waddling gait Hypothermia Protruding tongue Large joint dislocations Lung abscess Syndactyly Urticaria Recurrent sinusitis Atopic dermatitis Recurrent bronchitis Chronic mucocutaneous candidiasis Hemihypertrophy Verrucae Recurrent sinopulmonary infections Impaired neutrophil chemotaxis Squamous cell carcinoma of the vulva Anal canal squamous carcinoma Opportunistic infection Eosinophilia Recurrent candida infections Recurrent Staphylococcus aureus infections Severe viral infections Onychomycosis Recurrent bacterial skin infections Eczematoid dermatitis T-cell lymphoma Recurrent fungal infections Fractures of the long bones B lymphocytopenia Persistence of primary teeth Decrease in T cell count Recurrent skin infections Encephalopathy Cutaneous finger syndactyly Bradycardia Mixed hearing impairment Prolonged QT interval Multiple joint contractures 2-3 toe syndactyly Ventricular fibrillation Patent foramen ovale Atrioventricular block Optic nerve hypoplasia Ventricular arrhythmia Cutaneous syndactyly Ventricular tachycardia Cardiac arrest Hypoplasia of dental enamel Arrhythmia Abnormality of the face Pulmonary arterial hypertension Cardiomegaly Microdontia Esotropia Syncope Sudden cardiac death Coma Hemivertebrae Hypertrophic cardiomyopathy Hypoglycemia Recurrent bacterial infections Multiple joint dislocation Bifid distal phalanx of the thumb Proximal muscle weakness Mild short stature Unilateral cryptorchidism Abnormality of nervous system morphology Wide nasal base Thick hair Intestinal atresia Microphallus Overlapping fingers Thick upper lip vermilion High anterior hairline Insomnia Abnormality of digit Slender finger Radial deviation of finger Deep plantar creases Proximal placement of thumb Abnormality of the voice Abnormality of the outer ear Widely spaced teeth Bilateral single transverse palmar creases Narrow face Hoarse voice Abnormality of the genital system Open mouth Small nail Red hair Growth hormone deficiency Thick nasal alae Toe clinodactyly Tapered finger Congenital hip dislocation Pectus excavatum Headache Pain Muscle weakness Ataxia Asymmetric crying face Dermoid cyst Body odor Small face Preauricular pit Congenital contracture Spina bifida occulta Preauricular skin tag Flared nostrils Facial palsy Polydactyly Cerebellar atrophy Flexion contracture Abnormality of the proximal phalanx of the thumb Medial flaring of the eyebrow Gastrointestinal atresia Conspicuously happy disposition Long palm Large fleshy ears Dysplastic corpus callosum Anisocoria Delayed myelination Single transverse palmar crease Advanced tarsal ossification Abnormality of the pinna Relative macrocephaly Acanthosis nigricans Narrow palpebral fissure Broad-based gait Hypoplasia of penis Decreased testicular size Memory impairment Short foot Delayed puberty Synophrys Neurological speech impairment Wide mouth Gait ataxia Cubitus valgus Hyperhidrosis Absent speech Gait disturbance Splayed fingers Medial deviation of the foot Radioulnar dislocation Broad first metatarsal Proximal fibular overgrowth Multiple carpal ossification centers Supernumerary metacarpal bones Phalangeal dislocation Partial duplication of the distal phalanx of the hallux Cachexia Large hands Sleep disturbance Moderately short stature Iris coloboma Thin vermilion border Hypermetropia Severe global developmental delay Small for gestational age Broad forehead Protruding ear Developmental regression Muscular hypotonia of the trunk Posteriorly rotated ears Nystagmus Abnormality of toe Mood swings Open bite Abdominal obesity Panhypopituitarism Abnormal hair pattern Distal lower limb amyotrophy Down-sloping shoulders Restlessness Striae distensae Biparietal narrowing Cerebellar vermis atrophy Abnormality of the musculature Truncal obesity Cortical gyral simplification Cortical dysplasia Occipital myelomeningocele



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Tremor and Brachycephaly, related diseases and genetic alterations Ptosis and Bradycardia, related diseases and genetic alterations Obesity and Dysphagia, related diseases and genetic alterations

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