Contractures-ectodermal dysplasia-cleft lip/palate syndrome

Also known as: Ladda-Zonana-Ramer syndrome

Definition

Orphanet

Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.

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Symptoms

Medical Term Other Names Description
Abnormal facial shape Dysmorphic facial features, Facial Dysmorphism, Deformity of face, Distortion of face, Unusual facial appearance, Funny looking face, Dysmorphic facies, Unusual facies, Malformation of face, Abnormal morphology of the face, Distinctive facies [more] An abnormal morphology (form) of the face or its components.
Flexion contracture Contracture, Flexion contractures of joints, Joint contractures [more] A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Ectodermal dysplasia Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
Blepharophimosis Decreased width of palpebral fissure, Narrow opening between the eyelids A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Hypodontia Missing between one and six teeth, Failure of development of between one and six teeth A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing.
Oral cleft Oral clefting, Cleft lip/palate, Cleft of the mouth, Cleft lip, cleft palate [more] The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
Arthrogryposis multiplex congenita Arthrogryposis multiplex, Multiple congenital contractures, Arthrogryposis, Arthrogryposis, congenital [more] A non-progressive finding characterized by multiple joint contractures found throughout the body at birth.
Micrognathia Lower jaw hypoplasia, Mandibular deficiency, Retrusion of lower jaw, Hypoplastic mandible condyle, Small mandible, Decreased projection of lower jaw, Micrognathia of lower jaw, Mandibular retrognathia, Mandibular retrusion, Decreased size of lower jaw, Micromandible, Underdevelopment of lower jaw, Hypotrophic mandible, Hypotrophic lower jaw, Robin mandible, Little mandible, Underdevelopment of mandible, Small jaw, Decreased size of mandible, Hypoplastic mandible, Little lower jaw, Decreased projection of mandible, Mandibular micrognathia, Lower jaw retrognathia [more] Developmental hypoplasia of the mandible.
Nevus Mole, Naevi, Naevus, Nevi [more] A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
Deeply set eye Deep-set eyes, Sunken eye, Ocular depression, Enophthalmos [more] An eye that is more deeply recessed into the plane of the face than is typical.
Growth delay Growth deficiency, Delayed growth, Growth retardation, Growth failure, Retarded growth, Very poor growth [more] A deficiency or slowing down of growth pre- and postnatally.
Dry skin Xerosis Skin characterized by the lack of natural or normal moisture.

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