Presentation
LMNA encoding lamin A/C on 1 q. characterized by hypoplastic mandible, dental crowding, acroosteolysis, stiff joints, and atrophy of the skin of the hands and feet; clavicles are hypoplastic, cranial sutures are wide, and multiple sutural bones are present [medical-dictionary.thefreedictionary.com]
Acronym MADB Synonyms Lipodystrophy type B associated with mandibuloacral dysplasia Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
Multiple supernumerary teeth in all quadrants in premolar region were present. 17, 27 and 37 microdontia was present. [jiaomr.in]
Entire Body System
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Loss of Hair
Some people with this condition have features of premature aging (a condition called progeria), such as thin skin, loss of teeth, loss of hair, and a beaked nose. [ghr.nlm.nih.gov]
Thereafter, progressive loss of hair and eyebrows, swallowing difficulty and bulbous cheeks were present slowly. She also complained that water-drinking may make her choke with ease. [bmcpediatr.biomedcentral.com]
Respiratoric
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High Pitched Voice
Individuals may also have a high-pitched voice, a delay in sexual features, and may develop an insulin resistance (the hormone responsible for controlling the amount of sugars in our blood), which could lead to diabetes. [diseaseinfosearch.org]
Some patients may show premature aging features including bird-like facies, high-pitched voice, alopecia, skin atrophy, and nail dysplasia [ 2, 6 ]. [bmcpediatr.biomedcentral.com]
Jaw & Teeth
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Tooth Loss
In adolescence, dental crowding is observed; hypoplastic roots lead to early tooth loss. MAD is associated with mutations in the genes LMNA or ZMPSTE24. [jiaomr.in]
Hypoplastic roots lead to early tooth loss. The skin is atrophic with decreased subcutaneous fat. Several individuals develop a hyperpigmented rash and hyperkeratotic papular lesions over the trunk and extremities respectively [8]. [jocr.co.in]
Ears
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Hearing Impairment
LERI-WEILL DYSCHONDROSTEOSIS; LWD Is also known as dyschondrosteosis;dco Related symptoms: Autosomal dominant inheritance Short stature Pica Hearing impairment Scoliosis SOURCES: OMIM More info about LERI-WEILL DYSCHONDROSTEOSIS; LWD High match HYPERTROPHIC [mendelian.co]
IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia Morillo-Cucci Passarge Syndrome Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism Multisystem [rgd.mcw.edu]
Musculoskeletal
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Sloping Shoulders
However, some common symptoms include underdevelopment of the jawbone, bulb-looking fingers and toes, distinct facial features that make an individual look older (along with hair-loss), and sloping shoulders. [diseaseinfosearch.org]
Additional signs are chest disorder (as a narrow “keeled breast”, sloping shoulders) and adipose tissue deficit. Micrognathia and sloping shoulders may mimic atypical progeroid phenotype. [medcraveonline.com]
Most affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), leading to the characteristic features of a small chin and sloped shoulders. [ghr.nlm.nih.gov]
He had markedly downward sloping shoulders. Examination of the lungs, heart, abdomen, and genitals was normal. Patchy areas of poikiloderma were present on his neck and lower abdomen and in the axillary and inguinal regions. [jmg.bmj.com]
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Arthralgia
Diseases related with High palate and Arthralgia In the following list you will find some of the most common rare diseases related to High palate and Arthralgia that can help you solving undiagnosed cases. [mendelian.co]
[…] fontanelle closure - Osteolysis / osteoclasia / bone destruction / erosions - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Rippled skin - Thin / retracted lips - Tight skin / lack of elasticity Occasional - Articular / joint pain / arthralgia [csbg.cnb.csic.es]
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Joint Stiffness
stiffness at the age of 12 months. [bmcpediatr.biomedcentral.com]
Skin
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Alopecia
Definition A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss [uniprot.org]
[…] recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook nose and prominent eyes, delayed closures of the cranial sutures, lipodystrophy, alopecia [ingentaconnect.com]
These patients's clinical features include progeroid manifestations, such as short stature, prominent nose, premature graying of hair, partial alopecia, skin atrophy, lipodystrophy, skeletal anomalies, such as mandibular hypoplasia and acroosteolyses, [scholar.um5.ac.ma]
A, Alopecia, micrognathia, and hanging shoulders (patient VII-1, family 1). B, X-ray films showing hypoplastic clavicles (patient 4). C, Lipodystrophy, hyperpigmentation, and acroosteolysis in lower limbs (patient VII-1). [slideplayer.com]
He had impressive alopecia, prominent head blood vessels, limited ARRY-334543 jaw flexibility, and dental care crowding. His hands had been little and contracted with bulbous distal ideas and purplish staining on the extensor areas. [dna-pk.info]
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Skin Atrophy
Symptoms - Mandibuloacral dysplasia with type A lipodystrophy * Small jaw * Severely crowded teeth * Bone loss in extremities * Stiff joints * Skin atrophy in hands Causes - Mandibuloacral dysplasia with type A lipodystrophy 14Q syndrome - 18p minus syndrome [checkorphan.org]
These patients's clinical features include progeroid manifestations, such as short stature, prominent nose, premature graying of hair, partial alopecia, skin atrophy, lipodystrophy, skeletal anomalies, such as mandibular hypoplasia and acroosteolyses, [scholar.um5.ac.ma]
E, short distal phalanges, “joint stick deformities” of the fingers with areas of skin atrophy over the hand (patient VII-1). [slideplayer.com]
Additional findings include skin atrophy (most prominent over the nose and sutural areas of the scalp), thin sparse hair, mi-crophthalmia, cataract, strabismus, narrow and high-arched palate, and a characteristic small, pointed nose (Cohen 1991; Christian [rrnursingschool.biz]
atrophy, late closure of the cranial fontanelles and sutures, a thin, beaked nose and prominent eyes, and postnatal growth retardation. [updoc.site]
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Partial Alopecia
Definition A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss [uniprot.org]
These patients's clinical features include progeroid manifestations, such as short stature, prominent nose, premature graying of hair, partial alopecia, skin atrophy, lipodystrophy, skeletal anomalies, such as mandibular hypoplasia and acroosteolyses, [scholar.um5.ac.ma]
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Partial Alopecia
Definition A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss [uniprot.org]
These patients's clinical features include progeroid manifestations, such as short stature, prominent nose, premature graying of hair, partial alopecia, skin atrophy, lipodystrophy, skeletal anomalies, such as mandibular hypoplasia and acroosteolyses, [scholar.um5.ac.ma]
Face, Head & Neck
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Beak Nose
From Dorland's, 2000. craniofacial dysostosis an autosomal dominant condition marked by a pointed or conical skull, protruding wide-set eyes, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism. [medical-dictionary.thefreedictionary.com]
Some people with this condition have features of premature aging (a condition called progeria), such as thin skin, loss of teeth, loss of hair, and a beaked nose. [ghr.nlm.nih.gov]
nose - Clavicle absent / abnormal - External ear anomalies - Global upper and lower limbs anomalies - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Large fontanelle / delayed fontanelle closure - Osteolysis / osteoclasia / bone [csbg.cnb.csic.es]
Characteristic manifestations are progressive mandibular and clavicular hypoplasia, short distal phalanges with acroosteolysis, a thin, beaked nose, prominent eyes and delayed closure of the fontanelles and cranial sutures. [updoc.site]
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Beaked Nose
From Dorland's, 2000. craniofacial dysostosis an autosomal dominant condition marked by a pointed or conical skull, protruding wide-set eyes, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism. [medical-dictionary.thefreedictionary.com]
Some people with this condition have features of premature aging (a condition called progeria), such as thin skin, loss of teeth, loss of hair, and a beaked nose. [ghr.nlm.nih.gov]
nose - Clavicle absent / abnormal - External ear anomalies - Global upper and lower limbs anomalies - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Large fontanelle / delayed fontanelle closure - Osteolysis / osteoclasia / bone [csbg.cnb.csic.es]
Characteristic manifestations are progressive mandibular and clavicular hypoplasia, short distal phalanges with acroosteolysis, a thin, beaked nose, prominent eyes and delayed closure of the fontanelles and cranial sutures. [updoc.site]
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Bird-like Facies
Some patients may show premature aging features including bird-like facies, high-pitched voice, alopecia, skin atrophy, and nail dysplasia [ 2, 6 ]. [bmcpediatr.biomedcentral.com]
Treatment
Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]
Many treatments do exist for those with this disorder including medicines that can be given to combat diabetes. Exercise and keeping a healthy weight are also recommended. [diseaseinfosearch.org]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
Treatment - Mandibuloacral dysplasia with type A lipodystrophy Not supplied. Resources - Mandibuloacral dysplasia with type A lipodystrophy Not supplied. [checkorphan.org]
Prognosis
Prognosis - Mandibuloacral dysplasia with type A lipodystrophy Not supplied. Treatment - Mandibuloacral dysplasia with type A lipodystrophy Not supplied. Resources - Mandibuloacral dysplasia with type A lipodystrophy Not supplied. [checkorphan.org]
The prognosis appears to be related to the extent of orthopedic involvement, with wide variability of manifestations, even within the same family. The lifespan of the individual is normal. [fetalultrasound.com]
Prognosis Several studies have reported that life expectancy appears to be normal for people with CCD. [17] [18] [19] Epidemiology It affects about one per million people. [1] Notable cases At the rescue of Jessica McClure in 1987, Ron Short, a muscular [ipfs.io]
Prognosis Several studies have reported that life expectancy appears to be normal for people with CCD. [21] [22] [23] Epidemiology Cleidocranial dysostosis affects about one per million people. [1] Notable cases In 1987, a young girl named Jessica McClure [popflock.com]
Prognosis [ edit ] Several studies have reported that life expectancy appears to be normal for people with CCD. [21] [22] [23] Epidemiology [ edit ] Cleidocranial dysostosis affects about one per million people. [1] Notable cases [ edit ] In 1987, a young [wikizero.com]
Etiology
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
With the purpose of determining the molecular etiology of the boy’s phenotype, a thorough research was performed for the parents and individual. 2. Methods and Materials 2.1. [dna-pk.info]
The molecular etiology remains unknown in other indicated cases. 1, 2, 7, 8 Detection of such clinical cases indicates other genetic involvement in the pathogenesis of the Malouf syndrome. [medcraveonline.com]
Epidemiology
Synonym(s): - Progeria Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological [csbg.cnb.csic.es]
Prognosis Several studies have reported that life expectancy appears to be normal for people with CCD. [17] [18] [19] Epidemiology It affects about one per million people. [1] Notable cases At the rescue of Jessica McClure in 1987, Ron Short, a muscular [ipfs.io]
Prognosis Several studies have reported that life expectancy appears to be normal for people with CCD. [21] [22] [23] Epidemiology Cleidocranial dysostosis affects about one per million people. [1] Notable cases In 1987, a young girl named Jessica McClure [popflock.com]
Prognosis [ edit ] Several studies have reported that life expectancy appears to be normal for people with CCD. [21] [22] [23] Epidemiology [ edit ] Cleidocranial dysostosis affects about one per million people. [1] Notable cases [ edit ] In 1987, a young [wikizero.com]
Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010). [centogene.com]
Prevention
[…] lipodystrophy * Small jaw * Severely crowded teeth * Bone loss in extremities * Stiff joints * Skin atrophy in hands Causes - Mandibuloacral dysplasia with type A lipodystrophy 14Q syndrome - 18p minus syndrome 1q deletion 2q deletion 2q22-q24 deletion Prevention [checkorphan.org]
And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]
As it is genetically inherited, changes in maternal nutrition or lifestyle cannot prevent this disease. Genetic counselling of parents with the condition is important. [news-medical.net]
Wormian bones can sometimes be observed in the skull. [16] Poor development of the clavicles and a bell-shaped rib cage in a person with CDD Treatment Around 5 years of age, surgical correction may be necessary to prevent any worsening of the deformity [ipfs.io]