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]

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]

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]

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]

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]

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]

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]

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]

stiffness at the age of 12 months. [bmcpediatr.biomedcentral.com]

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]

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]

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]