A subset of patients present with hypothalamic hamartoma that has never been reported in other JSRD subgroups. [rareguru.com]

This case presented with findings of both OFDS types II and IV. [hindawi.com]

Conclusion Orofaciodigital syndrome type-VI, a rare genetic disease with poor prognosis, should always be considered as a differential diagnosis in neonates presenting with episodic tachypnea especially if poly (syn) dactyly is present and meticulous [ncbi.nlm.nih.gov]

• Pallister-Hall Syndrome

  Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/ 19 Dhull KS, Acharya S, Mohanty M, Dhull RS, Panda S. Oro-facial-digital syndrome type I: a case report. [autopsyandcasereports.org]

  Because of phenotypic overlap, Pallister–Hall syndrome (PHS) is considered as one of differential diagnoses.[1,4] Clinico-radiological features that distinguish the syndromes are bifid epiglottis, imperforate anus, insertional-polydactyly and lethal airway-anomalies [ncbi.nlm.nih.gov]

• Short Stature

  Some patients are mentally retarded and short stature is common. Genetics: Only a few families have been reported and the transmission patterns suggest autosomal recessive disease. Gene studies have identified at least two mutations among families. [disorders.eyes.arizona.edu]

  Features often include cleft lip or palate, lumps on the tongue, extra skin tissue in the mouth, abnormally shaped or missing teeth, extra fingers and toes, poor growth or short stature, and facial differences most often affecting the eyes including strabismus [globalgenes.org]

  Sabry et al. (1997) concluded that the common features among OFD VI and C Syndrome consisted of small penis and testes, short stature/failure to thrive, strabismus, ear abnormality, and hypotonia. [cags.org.ae]

  stature Decreased body height Small stature [ more ] 0004322 Syndactyly Webbed fingers or toes 0001159 Tongue nodules 0000199 5%-29% of people have these symptoms Abnormal heart morphology Abnormality of the heart Abnormally shaped heart Heart defect [rarediseases.info.nih.gov]

• Respiratory Distress

  Case Report A 17-day-old girl was admitted with chief complaint of episodic respiratory distress noted since the second day of her life. [ncbi.nlm.nih.gov]

• Failure to Thrive

  Sabry et al. (1997) concluded that the common features among OFD VI and C Syndrome consisted of small penis and testes, short stature/failure to thrive, strabismus, ear abnormality, and hypotonia. [cags.org.ae]

  […] to thrive Faltering weight Weight faltering [ more ] 0001508 Feeding difficulties in infancy 0008872 Finger clinodactyly 0040019 Frontal bossing 0002007 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Generalized hypotonia [rarediseases.info.nih.gov]

  At 5 months old, he was referred to our clinic for failure to thrive and developmental delay. [nature.com]

• Cyanosis

  […] was 1750 g (SGA), length 42 cm (<5th centile), OFC 32 cm (<5th centile), and respiratory rate was 42/min with episodic panting type of respiration, with rate up to 100/min lasting for 1-3 minutes, followed by apnea for 12-15 s without bradycardia or cyanosis [ncbi.nlm.nih.gov]

• Abnormal Eye Movement

  However, orofacial features were minimal with the absence of cleft-lip/palate and abnormal ocular movements whereas the metacarpal findings were remarkable. [ncbi.nlm.nih.gov]

• Hearing Impairment

  impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Esotropia Inward turning cross eyed 0000565 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Feeding [rarediseases.info.nih.gov]

• Alopecia

  A mosaic pattern of alopecia in the oral-facial-digital syndrome type I (Papillon-Léage and psaume syndrome). Pediatr Dermatol. 1999;16:367–70. [ncbi.nlm.nih.gov]

  The congenital absence of central incisors is a frequent feature of Mohr syndrome, whereas alar hypoplasia, alopecia, and milia are the main characteristics of OFDS type I. [bmcmusculoskeletdisord.biomedcentral.com]

• Broad Nasal Bridge

  She had a broad nasal bridge, root, and tip, protruding ears, and bifid frenula (Figure 2). She had a retrognathic mandible and a severe Angle Class III malocclusion (Figure 3). [hindawi.com]

  He had a broad forehead, hypertelorism, short nose, anteverted nares, broad nasal bridge, broad nasal tip, thin upper lip, hyperplastic oral frenula, high-arched palate, lobulated tongue, oral lingual nodules, tongue hamartomas, puffy cheeks, micrognathia [nature.com]

• Tremor

  Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Renal agenesis Absent kidney Missing kidney [ more ] 0000104 Seizure 0001250 Tremor [rarediseases.info.nih.gov]

Treatment of orofaciodigital syndrome type 1 There is no specific treatment for this syndrome. Treatment is directed at the problems encountered in an individual. [dermnetnz.org]

Treatment Treatment Options: No specific treatment is available for this syndrome but individual signs and symptoms may need treatment. [disorders.eyes.arizona.edu]

They offer help in all different aspects of how a rare disease can affect the daily routine of the family, from where to get special supplies to what the latest treatment is for a given condition. [rarediseases.oscar.ncsu.edu]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

Research is ongoing, so talk with your child’s doctor about the most current treatment options. Support groups are also good sources of support and information. [globalgenes.org]

Nothing is known about the prognosis. Most individuals require lifelong monitoring with intervention as needed for breathing difficulties, heart problems, cleft lip and palate, and cosmesis. [disorders.eyes.arizona.edu]

The importance of early accurate diagnosis of this rare disease for proper genetic counseling and prenatal case detection of pregnancy at risk is also emphasized as the prognosis is poor in almost all cases. [ncbi.nlm.nih.gov]

Etiology Two OFD6 patients, including one fetus, were found to carry a homozygous mutation in the TMEM216 gene (11q13.1), but mutations in this gene were excluded in several other patients, and the genetic basis of this condition still remains elusive [rareguru.com]

Etiology Two OFD6 patients, including one fetus, were found to carry a homozygous mutation in the TMEM216gene (11q13.1), but mutations in this gene were excluded in several other patients, and the genetic basis of this condition still remains elusive. [rarediseases.info.nih.gov]

Epidemiology Prevalence is unknown. Clinical description Typical oral findings include bifid or lobulated tongue, lingual hamartomas and multiple oral frenulae, but cleft lip and/or palate can also be present. [rareguru.com]

Congenital limb deficiency in Japan: a cross-sectional nationwide survey on its epidemiology. BMC Musculoskelet Disord. 2018;19(1):262. [bmcmusculoskeletdisord.biomedcentral.com]

Mutations in the OFD1 gene prevent cells from making enough functional OFD1 protein, which disrupts the normal development of these structures. [ghr.nlm.nih.gov]

Mutations in the OFD1 gene prevent cells from making enough functional OFD1 protein, which disrupts the normal development of these structures [3,4]. Diagnosis of OFD syndrome type I when suspected, may be confirmed by genetic testing [5]. [aclr.com.es]