Failure to thrive, and Ichthyosis

Diseases related with Failure to thrive and Ichthyosis

In the following list you will find some of the most common rare diseases related to Failure to thrive and Ichthyosis that can help you solving undiagnosed cases.

Top matches:

SC4MOL deficiency represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).

MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME Is also known as smo deficiency|sterol-c4-methyl oxidase deficiency|sc4mol deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME

Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.

SELF-IMPROVING COLLODION BABY Is also known as shcb|self-improving congenital ichthyosis|self-healing collodion baby|ichthyosis congenita|desquamation of newborn|sici|collodion fetus|icr2|ichthyosis congenita ii|ichthyosis, lamellar, 1, formerly|li1, formerly|lamellar exfoliation of newborn|collodion

Related symptoms:

  • Failure to thrive
  • Flexion contracture
  • Visual loss
  • Alopecia
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SELF-IMPROVING COLLODION BABY

CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Is also known as chondrodysplasia punctata, brachytelephalangic|cpxr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2

Medium match MPDU1-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.

MPDU1-CDG Is also known as congenital disorder of glycosylation type 1f|cdg syndrome type if|cdg-if|cdgif|cdg1f|carbohydrate deficient glycoprotein syndrome type if|congenital disorder of glycosylation type if|cdg if

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MPDU1-CDG

Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.

CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA Is also known as ichthyosiform erythroderma, nonbullous congenital, 1, formerly|erythrodermic ichthyosis|non-bullous congenital ichthyosiform erythroderma|ncie1, formerly|cie|collodion baby, self-healing|ichthyosiform erythroderma, brocq congenital, nonbullous form, forme

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA

Medium match NETHERTON SYNDROME

Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.

NETHERTON SYNDROME Is also known as erythroderma, ichthyosiform, with hypotrichosis and hyper-ige|comÈl-netherton syndrome|bamboo hair syndrome|comel-netherton syndrome|ns|netherton disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NETHERTON SYNDROME

Medium match CEDNIK SYNDROME

CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.

ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME Is also known as arc syndrome|arcs

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Ichthyosis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Ichthyosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Erythroderma Seizures Generalized hypotonia Hyperkeratosis Hearing impairment Flexion contracture Congenital nonbullous ichthyosiform erythroderma Elevated hepatic transaminase Muscular hypotonia Pruritus Eczema Nephrocalcinosis Palmoplantar keratoderma Alopecia Scaling skin Dry skin Congenital ichthyosiform erythroderma

Rare Symptoms - Less than 30% cases

Abnormality of the eye Recurrent infections Nephrogenic diabetes insipidus Severe global developmental delay Abnormality of vision Osteopenia Hypogonadism Aminoaciduria Proteinuria Ventricular septal defect Ataxia Low-set ears Cholestatic liver disease Jaundice Arthrogryposis multiplex congenita Depressed nasal bridge Metabolic acidosis Talipes calcaneovalgus Hip dysplasia Sloping forehead Lissencephaly Renal tubular acidosis Right ventricular hypertrophy Giant cell hepatitis Conjugated hyperbilirubinemia Nephropathy Eclabion Abnormal facial shape Everted lower lip vermilion Cataract Intellectual disability, mild Delayed skeletal maturation Inflammatory abnormality of the skin Psoriasiform dermatitis Malabsorption Sepsis Hypoplasia of the corpus callosum Abnormality of the hair Erythema Optic atrophy Nail dystrophy Sensorineural hearing impairment Scarring Dehydration Epidermal acanthosis Palmoplantar hyperkeratosis Subungual hyperkeratosis Ectropion Absent eyebrow Anhidrosis Lack of skin elasticity Neoplasm Epistaxis Hyperbilirubinemia Ventricular hypertrophy Congenital hip dislocation Diabetes insipidus Scoliosis Generalized aminoaciduria Renal tubular dysfunction Lichenification Barrel-shaped chest Cholestasis Severe failure to thrive Abnormal bleeding High palate Single transverse palmar crease Intellectual disability, progressive Prominent nasal bridge Dolichocephaly Abnormality of eye movement Long face Polymicrogyria Polyneuropathy Nephrotic syndrome Depressed nasal ridge Pachygyria Progressive microcephaly Short chin Poor head control Talipes Cortical dysplasia Abnormality of peripheral nerve conduction Abnormal corpus callosum morphology Perisylvian polymicrogyria Diffuse palmoplantar keratoderma Optic disc hypoplasia Micrognathia Talipes equinovarus Atrial septal defect Acidosis Abnormality of the liver Hip dislocation Anemia Type I diabetes mellitus Hepatomegaly Recurrent aphthous stomatitis Short thorax Steatorrhea Multiple lipomas Myeloid leukemia Acute myeloid leukemia Exocrine pancreatic insufficiency Ovoid vertebral bodies Aplastic anemia Recurrent viral infections Acute monocytic leukemia Metaphyseal chondrodysplasia Metaphyseal widening Anterior rib cupping Metaphyseal sclerosis Persistence of hemoglobin F Paroxysmal nocturnal hemoglobinuria Enlargement of the costochondral junction Proximal femoral metaphyseal irregularity Myocardial necrosis Metaphyseal dysostosis Proximal femoral epiphysiolysis Narrow sacroiliac notch Neonatal respiratory distress Myelodysplasia Gait disturbance Carious teeth Abnormality of the skeletal system Respiratory distress Immunodeficiency Thrombocytopenia Skeletal dysplasia Respiratory tract infection Pectus carinatum Small for gestational age Leukemia Narrow chest Neutropenia Leukopenia Generalized muscle weakness Specific learning disability Microdontia Apraxia Pancytopenia Abnormality of the metaphysis Decreased liver function Short ribs Bone marrow hypocellularity Recurrent bacterial infections Coxa vara Stroke Recurrent skin infections Macrotia Absent speech Short nasal septum Maternal autoimmune disease Nystagmus Strabismus Cognitive impairment Feeding difficulties Visual impairment Hypertonia Cerebral atrophy Severe short stature Epiphyseal stippling Apnea Abnormality of the coagulation cascade Abnormality of the pinna Paralysis Small nail Open mouth Hypohidrosis Short toe Abnormality of the nail Vitamin K deficiency Abnormality of the vertebral column External genital hypoplasia Hypotrichosis Arthralgia Congenital cataract Delayed puberty Blepharitis Immune dysregulation Hypocholesterolemia Decreased LDL cholesterol concentration Visual loss Hyperhidrosis Limitation of joint mobility Systemic lupus erythematosus Nail dysplasia Eosinophilia Parakeratosis Desquamation of skin soon after birth Cicatricial lagophthalmos Short nose Autoimmunity Short distal phalanx of finger Short phalanx of finger Anosmia Keratitis Short finger Agenesis of corpus callosum Hypernatremia Hypothermia Villous atrophy Verrucae Allergy Trichorrhexis nodosa Allergic rhinitis Increased IgE level Angioedema Immunologic hypersensitivity Hypernatremic dehydration Atopic dermatitis Brittle scalp hair IgE-mediated food allergy Hypertelorism Peripheral neuropathy Wide nasal bridge Downslanted palpebral fissures Intellectual disability, severe Congestive heart failure Abnormality of the dentition Areflexia Severe postnatal growth retardation Irregular hyperpigmentation Corneal erosion Fine hair Hypergranulosis Thin nail Fever Recurrent respiratory infections Weight loss Hydronephrosis Skin rash Asthma Decreased antibody level in blood Sparse scalp hair Abnormality of the musculature Sparse and thin eyebrow Sparse eyelashes Acanthosis nigricans Abnormal intestine morphology Urticaria Brittle hair Intracranial hemorrhage Emphysema Malnutrition Ectopic kidney Irregular ossification at anterior rib ends


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Macular degeneration, related diseases and genetic alterations Lymphoma and Spina bifida, related diseases and genetic alterations Brachydactyly and Aggressive behavior, related diseases and genetic alterations Strabismus and Hypogonadism, related diseases and genetic alterations