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Frontometaphyseal dysplasia
1 OMIM reference -
1 associated gene
145 connected diseases
33 signs/symptoms
Disease Type of connection
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Familial isolated dilated cardiomyopathy
Precursor T-cell acute lymphoblastic leukemia
Early-onset autosomal dominant Alzheimer disease
Senior-Loken syndrome
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Fanconi anemia
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Fetal and neonatal alloimmune thrombocytopenia
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Spondylocarpotarsal synostosis
Autosomal dominant hypocalcemia
Bartter syndrome with hypocalcemia
Behavioral variant of frontotemporal dementia
Familial hypocalciuric hypercalcemia type 1
Familial isolated hypoparathyroidism due to impaired PTH secretion
Myoclonus-dystonia syndrome
Neonatal severe primary hyperparathyroidism
Progressive non-fluent aphasia
Semantic dementia
Joubert syndrome with renal defect
Juvenile autosomal recessive medullary cystic kidney disease
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Estrogen resistance syndrome
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Axenfeld anomaly
Axenfeld-Rieger syndrome
Congenital stromal corneal dystrophy
Peters anomaly
Rieger anomaly
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1A
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Bernard-Soulier syndrome
Charcot-Marie-Tooth disease type 2B1
Chuvash erythrocytosis
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Myotilin-related myofibrillar myopathy without spheroid body
Primary peritoneal carcinoma
Progeria-associated arthropathy
Spheroid body myopathy
Von Hippel-Lindau disease
Von Willebrand disease, platelet type
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Burkitt lymphoma
Fibronectin glomerulopathy
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Leber congenital amaurosis
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
APC-related attenuated familial adenomatous polyposis
Acute basophilic leukemia
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Aneurysm - osteoarthritis syndrome
Autosomal agammaglobulinemia
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant macrothrombocytopenia
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Chronic mucocutaneous candidiasis
Chronic myeloid leukemia
Combined immunodeficiency due to STK4 deficiency
Common variable immunodeficiency
Craniometaphyseal dysplasia
Dedifferentiated liposarcoma
Desmoid tumor
Early-onset myopathy with fatal cardiomyopathy
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial dysautonomia
Familial thoracic aortic aneurysm and aortic dissection
Gardner syndrome
Glanzmann thrombasthenia
Hereditary proximal myopathy with early respiratory failure
Hypoplastic left heart syndrome
LIG4 syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Nestor-Guillermo progeria syndrome
Oculodentodigital dysplasia
Omenn syndrome
Precursor B-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
SHORT syndrome
Syndactyly type 3
Tibial muscular dystrophy
Turcot syndrome with polyposis
Well-differentiated liposarcoma
Epidermolysis bullosa simplex with pyloric atresia
Generalized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa - pyloric atresia
Localized junctional epidermolysis bullosa, non-Herlitz type
Lethal congenital contracture syndrome type 2
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Acute necrotizing encephalopathy of childhood
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Familial acute necrotizing encephalopathy
Inflammatory myofibroblastic tumor
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked dominant
External references:
1 OMIM reference -
1 MeSH reference: C538064
Gene symbol UniProt reference OMIM reference
FLNA P21333300017
Very frequent
- Bowed diaphysis / diaphyses / long bones
- Camptodactyly of fingers
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Diaphyseal anomaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Frontal sinus agenesis / anomaly
- Hypertelorism
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent supraorbital ridge
- Restricted joint mobility / joint stiffness / ankylosis
- Tooth shape anomaly
- X-linked recessive inheritance

Frequent
- Abnormal vertebral size / shape
- Advanced bone age
- Carpal bones fusion / synostosis
- Conductive deafness / hearing loss
- Elbow dislocation
- High vaulted / narrow palate
- Long hand / arachnodactyly
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Scoliosis
- Sensorineural deafness / hearing loss
- Thumb hypoplasia / aplasia / absence
- Ulnar deviation of fingers

Occasional
- Atrioventricular canal
- Autosomal dominant inheritance
- Craniostenosis / craniosynostosis / sutural synostosis
- Larynx / laryngeal stenosis / atresia
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Tracheal atresia / stenosis
- Ureteral stenosis / narrowing
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis