User Posts: Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type 1
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Autosomal recessive cutis laxa, pulmonary emphysema type 1 (ARCL1) is a rare inherited connective-tissue disorder. Babies or young children have very loose, ...

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Autosomal Recessive Cutis Laxa with Severe Systemic Involvement
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Autosomal recessive cutis laxa (ARCL) is a rare genetic disorder where the body’s elastic fibers—tiny stretchy cables that keep skin, lungs, blood vessels, and ...

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Autosomal Recessive Cutis Laxa Type 1 (ARCL1)
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Autosomal recessive cutis laxa type 1 (ARCL1) is a rare, inherited connective-tissue disorder. Babies or young children develop very loose, sagging, and ...

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Autosomal Recessive Congenital Non-Lamellar and Non-Erythrodermic Ichthyosis
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Autosomal recessive congenital non-lamellar and non-erythrodermic ichthyosis are rare genetic skin conditions present from birth. The skin makes too much thick ...

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Autosomal Recessive Congenital Ichthyosis 5 (ARCI-5)
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Autosomal Recessive Congenital Ichthyosis 5 (ARCI-5) is a rare, inherited skin condition that starts at birth or soon after. It makes the skin dry, thick, and ...

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Harlequin-Type Ichthyosis Fetalis
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Harlequin-Type Ichthyosis Fetalis is a very rare, severe, inherited skin disease. Babies are born with very thick, hard plates of skin that form large ...

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Harlequin Ichthyosis
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Harlequin ichthyosis is a very rare, inherited skin disorder. Babies are born with very thick, hard plates of skin that look like armor. Deep cracks split ...

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Autosomal Recessive Congenital Ichthyosis 4B (ARCI-4B)
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Autosomal recessive congenital ichthyosis 4B (ARCI-4B) clinically, ARCI-4B corresponds to Harlequin ichthyosis, a life-threatening neonatal form of ichthyosis ...

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Nonbullous Congenital Ichthyosiform Erythroderma
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Nonbullous congenital ichthyosiform erythroderma is a lifelong, inherited skin condition in which a baby is usually born with widespread red skin ...

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Lamellar Ichthyosis (LI)
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Lamellar ichthyosis (LI) is a rare, lifelong skin condition present from birth. Most babies are born covered in a tight, shiny “collodion” membrane. The ...

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Ichthyosis Congenital Autosomal Recessive Type 4A (ARCI-4A)
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Autosomal recessive congenital ichthyosis type 4A (ARCI4A) is a rare, inherited skin disease. Babies are born with very dry, thick, plate-like scales over most ...

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Autosomal Recessive Congenital Ichthyosis 4A (ARCI4A)
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Autosomal recessive congenital ichthyosis 4A (ARCI4A) is a lifelong, inherited skin condition in which a baby is born with very dry, thick, plate-like scales ...

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Ichthyosis–Follicular Atrophoderma–Hypotrichosis–Hypohidrosis Syndrome (IFAHH)
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Ichthyosis–Follicular Atrophoderma–Hypotrichosis–Hypohidrosis Syndrome (IFAHH) is a very rare, inherited skin and hair disorder. Babies are usually born with ...

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Ichthyosis and Follicular Atrophoderma with Hypotrichosis and Hypohidrosis
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Ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis is a genetic skin condition seen from birth. This condition is a life-long genetic ...

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Hypotrichosis–Congenital Ichthyosis Syndrome
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Hypotrichosis–congenital ichthyosis syndrome is a rare, inherited skin–hair disorder. Babies are usually born with dry, scaly skin (ichthyosis) and very little ...

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Autosomal Recessive Ichthyosis with Hypotrichosis
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Autosomal recessive ichthyosis with hypotrichosis is a very rare inherited skin-and-hair condition. Babies are born with ichthyosis (dry, thick, scaly skin) ...

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Autosomal Recessive Congenital Ichthyosis 11 (ARCI11)
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Autosomal recessive congenital ichthyosis 11 is a rare, inherited skin disease. It starts at birth or early infancy. The skin makes too much scale and does not ...

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Ichthyosis Congenital Autosomal Recessive 1, with or without Bathing Suit Distribution
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Ichthyosis Congenital Autosomal Recessive 1, with or without Bathing Suit Distribution is a lifelong inherited skin condition. Babies are usually born with ...

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Autosomal Recessive Congenital Ichthyosis 1
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Autosomal Recessive Congenital Ichthyosis 1—often shortened to ARCI-1—is a rare, inherited skin disease that starts at birth or in early life. “Autosomal ...

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Autosomal Recessive Spastic Paraplegia Type 9B (SPG9B)
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Autosomal recessive spastic paraplegia type 9B (SPG9B) is a rare inherited nerve condition. It mainly stiffens (spasticity) and weakens the legs, so walking ...

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