Acrocraniofacial dysostosis, also known as Kaplan Plauchu Fitch syndrome is a very rare hereditary disorder which is characterized by cranio-facial dysmorphisms, hearing loss, digital clubbing, and osseous anomalies. Only 2 cases have been described in medical literature. Description
The following is a list of the symptoms of the disorder:

Cranio-facial
Acrocephaly
Hypertelorism
Ptosis
Proptosis
Down-slanting parpebral fissures
High nasal bridge
Nostril anteversion
Short philtrum
Cleft palate
Micrognathia
Ear abnormalities
Preauricular sinus or cyst

Auditory
Hearing loss

Osseous
Metatarsus adductus
First brachymetacarpia
First brachymetatarsia
Proximally placed first toes
Craniosynostosis
Pectus excavatum
Partial duplication of the thumbs distal phalanx
Malleus and incus dysplasia
Tall lumbar vertebrae associated with increased interpedicular distance

Discovery
This disorder was first discovered in 1988 by Kaplan et al. when they described two sisters born to consanguineous parents with all the symptoms mentioned above. They suggested this disorder to be inherited in an autosomal recessive fashion. == References ==
Right atrial enlargement (RAE) is a form of cardiomegaly, or heart enlargement. It can broadly be classified as either right atrial hypertrophy (RAH), overgrowth, or dilation, like an expanding balloon. Common causes include pulmonary hypertension, which can be the primary defect leading to RAE, or pulmonary hypertension secondary to tricuspid stenosis; pulmonary stenosis or Tetralogy of Fallot i.e. congenital diseases; chronic lung disease, such as cor pulmonale. Other recognised causes are: right ventricular failure, tricuspid regurgitation, and atrial septal defect. Diagnosis
It is characterized by a high P wave amplitude (P pulmonale), i.e. a height greater than 2.5 mm in inferior ECG leads (II, III, aVF); and greater than 1.5 mm in right sided precordial leads (V1, V2). Large "a" waves on the JVP waveform can also aid in diagnosis. == References ==