Frontal bossing, and Round face

Diseases related with Frontal bossing and Round face

In the following list you will find some of the most common rare diseases related to Frontal bossing and Round face

High match TRISOMY 5P

Related symptoms:

  • Abnormality of chromosome segregation
  • Abnormality of the metacarpal bones
  • Renal hypoplasia/aplasia
  • Round face
  • Developmental regression


SOURCES: ORPHANET

More info about TRISOMY 5P

High match BRACHYDACTYLY, TYPE E1

BRACHYDACTYLY, TYPE E1 Is also known as brachydactyly, type e;bde;

Related symptoms:

  • Aplasia/Hypoplasia of the distal phalanx of the hallux
  • Straight clavicles
  • Type E brachydactyly
  • Multiple impacted teeth
  • Moderately short stature


SOURCES: ORPHANET OMIM

More info about BRACHYDACTYLY, TYPE E1

High match ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME

ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME Is also known as ;

Related symptoms:

  • Unilateral ulnar hypoplasia
  • Postaxial oligodactyly
  • Bilateral talipes equinovarus
  • Aplasia/Hypoplasia of the fibula
  • Aplasia/Hypoplasia of the ulna


SOURCES: ORPHANET OMIM

More info about ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME

High match SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM

SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM Is also known as chondrodysplasia, megarbane-dagher-melki type

Related symptoms:

  • Iliac crest serration
  • Severe platyspondyly
  • Squared iliac bones
  • Hypoplastic ischia
  • Spondylometaphyseal dysplasia


SOURCES: OMIM ORPHANET

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM

High match HYPERTELORISM, TEEBI TYPE

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia;

Related symptoms:

  • Female pseudohermaphroditism
  • Advanced eruption of teeth
  • Dimple chin
  • Widow's peak
  • Abnormality of the helix


SOURCES: ORPHANET OMIM

More info about HYPERTELORISM, TEEBI TYPE

High match SHORT RIB-POLYDACTYLY SYNDROME

Related symptoms:

  • Abnormality of the soft palate
  • Intestinal hypoplasia
  • Duodenal stenosis
  • Displacement of the external urethral meatus
  • Abdominal situs inversus


SOURCES: ORPHANET

More info about SHORT RIB-POLYDACTYLY SYNDROME

High match MEGALOCORNEA-INTELLECTUAL DISABILITY SYNDROME

MEGALOCORNEA-INTELLECTUAL DISABILITY SYNDROME Is also known as mmr syndrome, neuhauser syndrome;

Related symptoms:

  • Iridodonesis
  • Large fleshy ears
  • Primary hypothyroidism
  • Metatarsus valgus
  • Abnormality of the anterior chamber


SOURCES: OMIM ORPHANET

More info about MEGALOCORNEA-INTELLECTUAL DISABILITY SYNDROME

High match DYSOSTEOSCLEROSIS

Dysosteosclerosis is a rare bone dysplasia associated with neurodevelopmental deterioration. There is sclerosis and platyspondyly with progressive metaphyseal expansion and alteration of bone density. The early craniotubular bone modeling and clinical presentation resemble osteopetrosis (summary by Elcioglu et al., 2002).

DYSOSTEOSCLEROSIS Is also known as ;

Related symptoms:

  • Increased intervertebral space
  • Progressive bowing of long bones
  • Abnormal metaphyseal trabeculation
  • Sclerotic scapulae
  • Absent paranasal sinuses


SOURCES: ORPHANET OMIM

More info about DYSOSTEOSCLEROSIS

High match FIBROCHONDROGENESIS 1

Fibrochondrogenesis is a severe, autosomal recessive, short-limbed skeletal dysplasia clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Radiographically, the long bones are short and have broad metaphyseal ends, giving them a dumb-bell shape. The vertebral bodies are flat and, on lateral view, have a distinctive pinched appearance, with a hypoplastic posterior end and a rounded anterior end. The ribs are typically short and wide and have metaphyseal cupping at both ends (summary by Tompson et al., 2010). Genetic Heterogeneity of FibrochondrogenesisFibrochondrogenesis-2 (FBCG2 ) is caused by mutation in the COL11A2 gene (OMIM ) on chromosome 6p21.3.

FIBROCHONDROGENESIS 1 Is also known as ;

Related symptoms:

  • Widely patent sagittal suture
  • Widely patent coronal suture
  • Posterior vertebral hypoplasia
  • Broad ischia
  • Thin clavicles


SOURCES: OMIM ORPHANET

More info about FIBROCHONDROGENESIS 1

High match NON-RHIZOMELIC CHONDRODYSPLASIA PUNCTATA

Related symptoms:

  • Rounded middle phalanx of finger
  • Punctate vertebral calcifications
  • Abnormality of calvarial morphology
  • Abnormal bone ossification
  • Asymmetric growth


SOURCES: ORPHANET

More info about NON-RHIZOMELIC CHONDRODYSPLASIA PUNCTATA

Top 5 symptoms//phenotypes associated to Frontal bossing and Round face

Symptoms // Phenotype % Cases
Short stature 80%
Hypertelorism 70%
Depressed nasal bridge 60%
Brachydactyly 60%
Macrocephaly 40%
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Other less frequent symptoms

Patients with Frontal bossing and Round face. may also develop some of the following symptoms:

40% Prominent forehead 40% Long philtrum 40% Autosomal recessive inheritance 40% Narrow chest 40% Short nose 40% Micromelia 30% Abnormal form of the vertebral bodies 30% Malar flattening 30% Downslanted palpebral fissures 30% Abnormality of the metaphysis 30% Short ribs 30% Scoliosis 30% Low-set ears 30% Short neck 30% Anteverted nares 30% Clinodactyly of the 5th finger 30% Nystagmus 30% Autosomal dominant inheritance 20% Pectus excavatum 20% Hypoplastic toenails 20% Brachycephaly 20% Proptosis 20% Finger syndactyly 20% Everted lower lip vermilion 20% High palate 20% Omphalocele 20% Global developmental delay 20% Delayed skeletal maturation 20% Ventricular septal defect 20% Cleft palate 20% Wide nasal bridge 20% Low-set, posteriorly rotated ears 20% Micrognathia 20% Osteopenia 20% Muscular hypotonia 20% Seizures 20% Intellectual disability 20% Megalocornea 20% Broad ribs 20% Abnormality of the metacarpal bones 20% Abnormality of cardiovascular system morphology 20% Polyhydramnios 20% Strabismus 20% Postaxial hand polydactyly 20% Abnormality of the ribs 20% Depressed nasal ridge 20% Multicystic kidney dysplasia 20% Open mouth 20% Rhizomelia 20% Abnormality of the genital system 20% Platyspondyly 20% Optic atrophy 20% Laryngomalacia 20% Epicanthus 20% Short foot 20% Bell-shaped thorax 20% Growth delay 20% Ptosis 20% Fibular hypoplasia 20% Atrial septal defect 20% Short distal phalanx of finger 20% Hypoplastic ischia 20% Dolichocephaly 20% Protruding ear 20% Hypoplasia of penis 20% Deep philtrum 20% Joint hyperflexibility 20% Short long bone 20% Respiratory insufficiency 20% Developmental regression 20% Renal hypoplasia/aplasia 10% Hydronephrosis 10% Delayed closure of the anterior fontanelle 10% Splenomegaly 10% Cognitive impairment 10% Upslanted palpebral fissure 10% Alopecia 10% Abnormality of the cranial nerves 10% Camptodactyly of finger 10% Conductive hearing impairment 10% Limitation of joint mobility 10% Iris coloboma 10% Diaphyseal thickening 10% Premature loss of teeth 10% Synophrys 10% Disproportionate short stature 10% Flat face 10% Natal tooth 10% Irregular vertebral endplates 10% Increased susceptibility to fractures 10% Craniofacial hyperostosis 10% Rough bone trabeculation 10% Obstructive sleep apnea 10% Clavicular sclerosis 10% Sensorineural hearing impairment 10% Microcephaly 10% Cataract 10% Increased intervertebral space 10% Progressive bowing of long bones 10% Abnormal metaphyseal trabeculation 10% Sclerotic scapulae 10% Absent paranasal sinuses 10% Sclerosis of hand bone 10% Short diaphyses 10% Abducens palsy 10% Short sternum 10% Facial paralysis 10% Parietal bossing 10% Sclerosis of skull base 10% Absent frontal sinuses 10% Intrauterine growth retardation 10% Vertebral hypoplasia 10% Oligodontia 10% Narrow iliac wings 10% Hypoplastic vertebral bodies 10% Broad femoral neck 10% Flared metaphysis 10% Cerebral calcification 10% Premature birth 10% Plagiocephaly 10% Long clavicles 10% Epiphyseal stippling 10% Protuberant abdomen 10% Hypoplastic fingernail 10% Thoracic hypoplasia 10% Short middle phalanx of finger 10% Hypoplastic scapulae 10% Patent foramen ovale 10% Thin ribs 10% Hearing abnormality 10% Stillbirth 10% Asymmetric growth 10% Tented upper lip vermilion 10% Hydrops fetalis 10% Wide anterior fontanel 10% Joint contracture of the hand 10% Small hand 10% Abnormal bone ossification 10% Abnormality of calvarial morphology 10% Punctate vertebral calcifications 10% Rounded middle phalanx of finger 10% Narrow mouth 10% Camptodactyly 10% Abnormality of the pinna 10% Anterior rib cupping 10% Narrow greater sacrosciatic notches 10% Dermal atrophy 10% Widely patent sagittal suture 10% Aplasia/Hypoplasia of the skin 10% Increased bone mineral density 10% Abnormality of dental enamel 10% Short palm 10% Recurrent fractures 10% Delayed eruption of teeth 10% Abnormality of epiphysis morphology 10% Blindness 10% Ichthyosis 10% Abnormality of the fingernails 10% Hearing impairment 10% Widely patent coronal suture 10% Cutis marmorata 10% Posterior vertebral hypoplasia 10% Broad ischia 10% Thin clavicles 10% Posterior rib cupping 10% Broad thumb 10% Dumbbell-shaped long bone 10% Bowing of the long bones 10% Spina bifida occulta 10% Abnormality of the hip bone 10% Chorioretinal coloboma 10% Broad long bones 10% Abnormal diaphysis morphology 10% Abnormality of chromosome segregation 10% Ataxia 10% Abnormality of the helix 10% Cardiomegaly 10% Wormian bones 10% Muscular hypotonia of the trunk 10% Large fontanelles 10% Pulmonary arterial hypertension 10% Small for gestational age 10% Microtia 10% Female pseudohermaphroditism 10% Advanced eruption of teeth 10% Dimple chin 10% Widow's peak 10% Shawl scrotum 10% Metaphyseal cupping 10% Broad palm 10% Ectopic kidney 10% Preauricular pit 10% Short toe 10% Oral cleft 10% Tetralogy of Fallot 10% Highly arched eyebrow 10% Thick eyebrow 10% Thin vermilion border 10% Prominent nasal bridge 10% Arrhythmia 10% Tachypnea 10% Spondylometaphyseal dysplasia 10% Patent ductus arteriosus 10% Short metacarpal 10% Intellectual disability, severe 10% Obesity 10% Ventriculomegaly 10% Aplasia/Hypoplasia of the distal phalanx of the hallux 10% Straight clavicles 10% Type E brachydactyly 10% Multiple impacted teeth 10% Moderately short stature 10% Upper limb asymmetry 10% Short clavicles 10% Short metatarsal 10% Unilateral ulnar hypoplasia 10% Squared iliac bones 10% Postaxial oligodactyly 10% Bilateral talipes equinovarus 10% Aplasia/Hypoplasia of the fibula 10% Aplasia/Hypoplasia of the ulna 10% Short 5th finger 10% Lower limb asymmetry 10% Hemangioma 10% Toe syndactyly 10% Midface retrusion 10% Talipes equinovarus 10% Iliac crest serration 10% Severe platyspondyly 10% Umbilical hernia 10% Cryptorchidism 10% Myopia 10% Low anterior hairline 10% Metatarsus valgus 10% Abnormality of the anterior chamber 10% Poor coordination 10% Delayed CNS myelination 10% Hypoplasia of the iris 10% Genu recurvatum 10% Underdeveloped supraorbital ridges 10% Cupped ear 10% Hypercholesterolemia 10% Abnormality of immune system physiology 10% Genu varum 10% Stereotypy 10% Large fleshy ears 10% Astigmatism 10% Bifid uvula 10% Tapered finger 10% Arachnodactyly 10% Neurological speech impairment 10% Genu valgum 10% Short philtrum 10% Hypothyroidism 10% Pes planus 10% EEG abnormality 10% Dysphagia 10% Kyphosis 10% Primary hypothyroidism 10% Iridodonesis 10% Abnormality of the soft palate 10% Abnormality of the antihelix 10% Intestinal hypoplasia 10% Duodenal stenosis 10% Displacement of the external urethral meatus 10% Abdominal situs inversus 10% Abnormality of the pancreas 10% Calvarial skull defect 10% Decreased skull ossification 10% Abnormality of female internal genitalia 10% Male pseudohermaphroditism 10% Transposition of the great arteries 10% Hypoplastic left heart 10% Abnormality of the clavicle 10% Hydrocephalus 10% Aplasia/Hypoplasia of the lungs 10% Slender long bone 10% Short thorax 10% Non-midline cleft lip 10% Preaxial hand polydactyly 10% Accelerated skeletal maturation 10% Abnormality of pelvic girdle bone morphology 10% Intestinal malrotation 10% Aplasia/Hypoplasia of the corpus callosum 10% Bilateral single transverse palmar creases 10% Macroglossia 10% Cerebral cortical atrophy 10% Hepatomegaly