Presentation
The patient presented chronic renal disease. Nephrologic picture showed early stages of nephronophthisis. Psychomotor development was apparently normal. [ncbi.nlm.nih.gov]
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Presentation History A family history of consanguinity, early death, or renal disease is present in 67% of patients with nephronophthisis (NPH). [emedicine.medscape.com]
Jaw & Teeth
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Widely Spaced Teeth
Dysmorphic features included short stature with rhizomelic shortening of limbs, short fingers, narrow chest, high forehead, epicanthal folds, telecanthus, broad nasal bridge, low-set ears, sparse hair, and widely space teeth. [ncbi.nlm.nih.gov]
Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. [malacards.org]
Cardiovascular
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Heart Failure
Four of the reported patients died by age 7 years, one of heart failure, one of Interstitial pneumonitis, one of Respiratory Failure shortly after Birth as a result of severe thoracic hypoplasia, and the fourth of unknown cause. [medicbind.com]
Eyes
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Photophobia
We report on a 27-month-old Caucasian girl with CED, pre- and postnatal growth retardation, microcephaly, hypoplasia of the posterior corpus callosum, photophobia, and aberrant calcium homeostasis. [ncbi.nlm.nih.gov]
[…] retardation brachydactyly narrow thorax rhizomelic dwarfism epicanthal folds hypodontia and/or microdontia sparse, slow-growing, hyperpigmented, fine hair nail dysplasia hypohydrosis chronic renal failure heart defects liver fibrosis visual deficits photophobia [en.wikipedia.org]
Visual deficits are due to a symptomatic photoreceptor Dystrophy with photophobia, and electroretinography shows gross abnormalities. Elevated serum creatinine shows Chronic renal Failure due to tubulointerstitial nephropathy. [medicbind.com]
Musculoskeletal
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Long Arm
The gene IFT43 lies on the Watson (plus) strand of the long arm of chromosome 14 (14q24.3). A mouse model for IFT122 has been created. [en.wikipedia.org]
About 2/3 of cases are de novo deletions, 1/6 are due to de novo translocations between the long arms of an acrocentric and 18q, and the rest come from familial translocations, inversions, complex translocations or direct transmission [Schinzel 2001]. [healthdocbox.com]
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Short Arm
The gene is located on the short arm of chromosome 2 (2p24.1–2p24.3) The gene lies on the Crick (minus) strand and is 79,745 bases in length. [en.wikipedia.org]
The majority of cases involve the acrocentric chromosomes, with a short arm breakpoint, followed in frequency by chromosome 18. [healthdocbox.com]
Skin
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Sparse Hair
Dysmorphic features included short stature with rhizomelic shortening of limbs, short fingers, narrow chest, high forehead, epicanthal folds, telecanthus, broad nasal bridge, low-set ears, sparse hair, and widely space teeth. [ncbi.nlm.nih.gov]
hair, and abnormal finger and toe nails. [orpha.net]
Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. [malacards.org]
In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair. Still another may have hearing loss and defects of the enamel of the teeth. [nfed.org]
Face, Head & Neck
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Broad Nasal Bridge
Dysmorphic features included short stature with rhizomelic shortening of limbs, short fingers, narrow chest, high forehead, epicanthal folds, telecanthus, broad nasal bridge, low-set ears, sparse hair, and widely space teeth. [ncbi.nlm.nih.gov]
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High Forehead
Dysmorphic features included short stature with rhizomelic shortening of limbs, short fingers, narrow chest, high forehead, epicanthal folds, telecanthus, broad nasal bridge, low-set ears, sparse hair, and widely space teeth. [ncbi.nlm.nih.gov]
Workup
However, the molecular genetic workup can be performed in two steps: MLPA, followed by sequencing of the coding regions and splice sites (Grimm et al 2012). [healthdocbox.com]
X-Ray
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Posterior Fossa Cysts
Posterior fossa anomalies were additional findings in this patient and included an enlarged cisterna magna and a posterior fossa cyst. [ncbi.nlm.nih.gov]
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Small Kidney
They showed acromesomelic shortening, craniofacial characteristics with absence of craniosynostosis, small kidneys with tubular and glomerular microscopic cysts, persistent ductal plate with portal fibrosis in the liver, small adrenals, an enlarged cisterna [en.wikipedia.org]
Postmortem findings in the two fetuses included acromesomelic shortening, craniofacial characteristics with absence of craniosynostosis, small kidneys with tubular and glomerular microscopic cysts, persistent ductal plate with portal fibrosis in the liver [ncbi.nlm.nih.gov]
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Atelectasis
While this patient had mild thoracic dystrophy not requiring surgical treatment, there was nevertheless newborn respiratory distress, restrictive airway disease with possible obstructive airway involvement, repeated respiratory infections, and atelectasis [ncbi.nlm.nih.gov]
Treatment
Management and treatment In many cases, renal function rapidly deteriorates, requiring treatment of metabolic acidosis, oral sodium chloride supplementation, then dialysis or renal transplantation in case of end-stage renal failure. [orpha.net]
In view of the rarity of the cranioectodermal dysplasias, the variability of the phenotype, and the uncertain outcome of some previously described patients, we believe this inapparent, subtle case should reported to enable better understanding and treatment [ncbi.nlm.nih.gov]
Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Please see also our disclaimer. This site complies with the HONcode standard for health information: verify here. Database updated 2019-02-19. [diseasesdatabase.com]
Prognosis
Prognosis Prognosis depends on renal, heart and lung defects which can be life threatening. The documents contained in this web site are presented for information purposes only. [orpha.net]
This is important information for clinicians looking after such children, and their families, when considering the long-term prognosis and management. [ncbi.nlm.nih.gov]
[…] history of CED The treatment options for Cranioectodermal Dysplasia include correction of the skeletal abnormalities through surgery, medication for organ dysfunction, physical therapy, growth hormone treatment, and special education amongst others The prognosis [dovemed.com]
Etiology
Etiology CED is a heterogenous condition belonging to the ciliopathy group of diseases and is due to mutations in the IFT122, IFT43, WDR19 and WDR35 genes involved in intraflagellar transport (IFT). [orpha.net]
(Etiology) In 40% of the individuals with Cranioectodermal Dysplasia, the disorder is caused by mutation(s) in any of the following 4 genes: WDR35, WDR19, IFT122, and IFT43 Each of the causative genes codes for a protein that forms a subunit of a complex [dovemed.com]
The aim of this study was to evaluate the ability of a combination of MLPA kits to establish the etiologic diagnosis in a group of patients with syndromic ID. [healthdocbox.com]
Epidemiology
Summary Epidemiology To date, 20 cases have been reported in the literature. [orpha.net]
(1966), Epidemiology of autistic conditions in young children: Some characteristics of the parents and children, Social Psychiatry, Kuehn B.M., (2007), CDC: autism spectrum disorders common, Journal of the American Medical Association, 297, CDC, (2012 [healthdocbox.com]
Prevention
Currently, there are no specific methods or guidelines to prevent Cranioectodermal Dysplasia, since it is a genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus [dovemed.com]
Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [icdlist.com]
This leads to small rib cage which prevents proper lung expansion giving rise to distressed breathing. Dysfunction of kidney leading to: Renal insufficiency due to kidney damage. [tandurust.com]
Care must be taken to prevent cracking, bleeding, and infection. Sweat glands [ edit ] Individuals affected by certain ED syndromes cannot perspire. [en.wikipedia.org]