Keywords: Children Rare; Genetic and hereditary disorders; Iraq

Introduction

Common genetic and hereditary disorders in Iraq include the thalassaemias and hemophilias [1,2], for these disorders specialized clinics and centers have been established. In addition to Down syndrome which has been observed frequently [2]. many other less common disorders have also been observed including achondroplasia, polycystic kidney disease, Duchenne muscular dystrophy, Werding Hoffman disease, Gaucher disease, mucopolysaccharidosis [1,3].

The occurrence of oculo-cerebro-renal syndrome, and nephropathic cystinosis have been well documented and studied in Iraqi children [4,5]. In fact, other genetic renal diseases (Table 1) have also been studied and reported [6-11].

Rare and very rare previously well documented genetic disorders in Iraq included diastrophic dysplasia, Coffin Siris syndrome, Cutis laxa type II (Debre type), Aicardi syndrome, and diastrophic dysplasia [12-17]. Little is known about the uncommon, rare, and very rare genetic and hereditary disorders in Iraq. The aim of this paper is to study the pattern of rare and very rare genetic disorders observed by one pediatrician at a single tertiary pediatric center during three-year period.

Materials and Methods

During three-year period (2016-2018), 43 patients (29 males, 14 females) with uncommon, rare and very rare genetic and hereditary disorders were observed by one pediatrician at one tertiary pediatric center. Their ages ranged from 5 days to 17 years.

Results

Five patients including brothers from three unrelated families had Duchenne muscular dystrophy. One of the patients had also autism, and one patient had bilateral testicular atrophy. Four patients including a brother and sister from two unrelated families had Charcot Marie Tooth disease.

Three unrelated male patients had Wohlfart Kugelberg Welander (Juvenile spinal muscular atrophy). Two brothers had Wiskott Aldrich syndrome. Two sisters had hereditary (Familial) spastic paraplegia. One of the sisters developed systemic lupus erythematosus. Two unrelated male patients had Beckwith Wiedemann syndrome (Figure 1A,B). Fourteen unrelated male’s patients had fifteen different disorders and ten unrelated female patients had different disorders (Table 2).

Discussion

There are few thousands of rare diseases affecting humans. Coffin Siris syndrome is a rare genetic disorder associated with mental retardation, coarse facial features, thick eyebrows, big mouth, hirsutism, and sparse scalp hair especially in the temporal region despite hypertrichosis [13,14]. Cutis laxa type II is a rare congenital disorder first described by Robert Debre, a French physician and his colleagues in 1937. is characterized by the unique association of generalized cutis laxa (loose skin from birth with redundant folds, generally sparing the face), characteristic facial features, late closure of the fontanel, and dislocation of one hip, pre-and postnatal growth retardation, and delayed motor development [15,16]. Aicardi syndrome is a rare genetic disorder of cerebro-ocular malformations that affects primarily females. It was thought that the syndrome is the result of heterozygous mutations in an X-linked gene, therefore it occurs only in persons with two X chromosomes. The disorder was probably first described by Jean Aicardi and colleagues in 1965. The syndrome is associated with agenesis of the corpus callosum, mental retardation, seizures and infantile spasms, and ocular abnormalities including chorioretinal lacunae, and microphthalmia [18]. Sanjad-Sakati-Richardson-Kirk is a syndrome of severe growth retardation, mental retardation, and chronic hypocalcemia caused by hypoparathyroidism was first reported by Sanjad, Sakati, and Abu-Osba in 1988, but it was first fully described in 1990 by Ricky J Richardson from the Sick Children Hospital of Great Ormond Street in London, and Jeremy MW Kirk from St Bartholomew's Hospital in London [19]. Townes Brocks syndrome is a rare autosomal dominant hereditary disorder which was probably first described in 1972 by Dr Philip L. Townes and Dr Eric Brocks. Dr Philip was professor of pediatrics at the University of Rochester, and Eric Brocks was a medical student. The syndrome is characterized by a triad of imperforate anus, limb defects, and ear abnormalities [20].

Very rare previously well documented genetic disorders in Iraq included the first case of Coffin Siris syndrome in the Arab which was the 76^th or 80^th case in the world depending of the exclusion of some doubtful cases [13,14,21], the Thirty fifth case of Cutis laxa type II (Debre type) in the world [15,22], the first case of Aicardi syndrome in an Arab patient which was associated with novel occurrence of corneal opacity [16].

In this series, very rare genetic disorders in Iraq included four very rare disorder. The Thirty-six case of cutis laxa type II (Debre type) in the world, and the second case in Iraq. The case was also most probably the first case to be associated with atrial septal defect [22]. The first case of Sanjad-Sakati-Richardson-Kirk syndrome in Iraq which was the case number 104 in the world [23]. The first case of Townes Brocks syndrome in Iraq which was the case number 130 in the world [20]. The second case of Coffin Siris syndrome in Iraq which was also the case number 170 in the world [21].