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Table 1 Diverse clinical features of autosomal dominant and X linked recessive cutis laxa (ADCL and XRCL) associated with each gene (

From: New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa

Inheritance ADCL XRCL
Phenotypes MIM 123700 MIM 614434 MIM 616603 MIM 304150
Genes ELN FBLN5 ALDH18A1 ATP7A
SKIN Loose redundant skin
Skin lacks elastic recoil
Excessive skin folds
No skin hyperelasticity
Normal wound healing
Skin Histology;
Sparse, fragmented elastic fibers
Redundant skin (present at birth, improves over time)
Skin folds (present on abdomen and arms)
Hyperextensible skin
Wrinkled skin (present on backs of hands and wrists)
Thin, translucent skin
Lax skin
Wrinkled skin
Soft skin
Mildly extensible skin
Loose, redundant skin
Easy bruisability
Coarse hair
CARDIOVASCULAR Mitral valve regurgitation
Aortic valve regurgitation
Mitral valve regurgitation Thin, translucent aortic valve (rare)
Aortic insufficiency (rare
Orthostatic hypotension
Elongated, tortuous carotid arteries
Intracranial arterial narrowing
RESPIRATORY Emphysema    
HEAD Premature aged appearance   Microcephaly
Triangular face
Prominent forehead
Broad forehead
Prominent ears
Low-set ears
Congenital cataracts
Corneal clouding
Strabismus (in some patients)
-Persistent, open anterior fontanel
Long, thin face
High forehead
Long philtrum
Hooked nose
High-arched palate
Long neck
GENITOURINARY External Genitalia (Male);
Inguinal hernia
  Unilateral renal agenesis (rare) Hydronephrosis
Ureteral obstruction
Bladder diverticula
Bladder rupture
Bladder carcinoma
MISCELLANEOUS Genetic heterogeneity
Onset of skin manifestations from birth to puberty
One African American female has been described
Cutaneous manifestations significantly improved over the first decade of life
  
SKELETAL   Scoliosis Osteopenia (in some patients)
Delayed closure of fontanels
Wormian bones (in some patients)
Abnormal spine curvature (in some patients)
Hip dislocation
Joint hyperlaxity
Adducted thumbs
Clenched fingers
Clubfoot (in some patients)
Pes calcaneovalgus (rare)
Joint laxity
Osteoporosis
Occipital horn exostoses
Kyphosis
Mild platyspondyly
Coxa valga
Pelvic exostoses
Short humeri
Genu valgum
Limited elbow extension
Limited knee extension
Capitate-hamate fusion
Pes planus
ABDOMEN   Extensive folding and redundant skin (present at birth) Hernias
Feeding difficulties
Chronic diarrhea
Hiatal hernia
NEUROLOGIC    Psychomotor retardation
Hypotonia
Brisk reflexes
Cranial vessel tortuosity
Foramen magnum stenosis (in some patients)
Autism spectrum disorder (rare)
Low-normal IQ
Other    Prenatal and postnatal growth retardation Narrow shoulders
Narrow chest
Short, broad clavicles
Pectus excavatum
Pectus carinatum
Short, broad ribs