The patient presented chronic renal disease. Nephrologic picture showed early stages of nephronophthisis. Psychomotor development was apparently normal. [ncbi.nlm.nih.gov]

Presentation History A family history of consanguinity, early death, or renal disease is present in 67% of patients with nephronophthisis (NPH). [emedicine.medscape.com]

Respiratory infections can be more common because the normal protective secretions of the mouth and nose are not present. [en.wikipedia.org]

• 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]

• 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]

• 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]

• 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]

  Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. [malacards.org]

  hair, and abnormal finger and toe nails. [orpha.net]

  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]

• 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]

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]

• Posterior Fossa Cysts

  […] magna and a posterior fossa cyst. [en.wikipedia.org]

  Posterior fossa anomalies were additional findings in this patient and included an enlarged cisterna magna and a posterior fossa cyst. [ncbi.nlm.nih.gov]

• 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]

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]

Treatment Of Cranioectodermal Dysplasia The child born with cranioectodermal dysplasia needs multifaceted treatment measures which include: Surgical repair of various anomalies associated with hands, legs and fingers. [tandurust.com]

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]

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 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]

Summary Epidemiology To date, 20 cases have been reported in the literature. [orpha.net]

PLOS Biology, 9, e Lotter V., (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 [healthdocbox.com]

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]