Undiagnosed 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 that can help you to solve undiagnosed cases. Browse more diseases related to these clinical features.

High match ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY

Morava-Mehes syndrome

ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY Is also known as ;ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.

Related symptoms:

  • Autosomal dominant inheritance
  • Short stature
  • Growth delay
  • Brachydactyly
  • Frontal bossing


SOURCES: UMLS OMIM MESH ORPHANET SCTID MONDO

More info about ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY

Browse more diseases

High match BRACHYDACTYLY, TYPE E1; BDE1

BRACHYDACTYLY, TYPE E1; BDE1 Is also known as brachydactyly, type e;bde;brachydactyly type e (bde) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus


SOURCES: OMIM MONDO MESH UMLS ORPHANET DOID

More info about BRACHYDACTYLY, TYPE E1; BDE1

Browse more diseases

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:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: MESH OMIM MONDO UMLS ORPHANET

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

Browse more diseases

High match HYPERTELORISM, TEEBI TYPE

Brachycephalofrontonasal dysplasia; Craniofrontonasal dysplasia, Teebi type; Teebi hypertelorism syndrome; Teebi syndrome

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia;teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. the facial features can also resemble aarskog and opitz g/bbb syndromes (see these terms).

Related symptoms:

  • Autosomal dominant inheritance
  • Hypertelorism
  • Strabismus
  • Ptosis
  • Cryptorchidism


SOURCES: SCTID OMIM ORPHANET UMLS GARD MONDO

More info about HYPERTELORISM, TEEBI TYPE

Browse more diseases

High match MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD

Mental retardation and distinctive facial features with or without cardiac defects (MRFACD) is an autosomal dominant, complex syndromic neurodevelopmental disorder characterized by delayed psychomotor development, poor speech acquisition, distinctive dysmorphic facial features, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. There is variable penetrance of cardiac malformations, ranging from no malformations to patent foramen ovale to septal defects and/or transposition of the great arteries (summary by Adegbola et al., 2015).

MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO OMIM ORPHANET UMLS GARD

More info about MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD

Browse more diseases

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 ;dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET SCTID UMLS MONDO GARD

More info about DYSOSTEOSCLEROSIS

Browse more diseases

High match FIBROCHONDROGENESIS 1; FBCG1

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; FBCG1 Is also known as ;fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. eleven cases have been reported. the face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. cleft palate, micrognathia and bifid tongue can occur. the limbs show marked shortness of all segments with relatively normal hands and feet. no internal anomalies other than omphalocele have been reported. transmission is probably autosomal recessive. recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: UMLS OMIM MONDO ORPHANET

More info about FIBROCHONDROGENESIS 1; FBCG1

Browse more diseases

High match FRAGILE X SYNDROME; FXS

Fragile X syndrome is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw. In most cases, the disorder is caused by the unstable expansion of a CGG repeat in the FMR1 gene and abnormal methylation, which results in suppression of FMR1 transcription and decreased protein levels in the brain (Devys et al., 1993). ReviewsFragile X syndrome accounts for about one-half of cases of X-linked mental retardation and is the second most common cause of mental impairment after trisomy 21 (OMIM ) (Rousseau et al., 1995).McCabe et al. (1999) summarized the proceedings of a workshop on the fragile X syndrome held in December 1998.Jacquemont et al. (2007) provided a review of fragile X syndrome, which they characterized as a neurodevelopmental disorder, and FXTAS, which they characterized as a neurodegenerative disorder.

FRAGILE X SYNDROME; FXS Is also known as fragile x mental retardation syndrome, mental retardation, x-linked, associated with marxq28, x-linked mental retardation and macroorchidism, marker x syndrome, martin-bell syndrome;fragile x syndrome (fxs) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Pica
  • Scoliosis


SOURCES: UMLS ORPHANET ICD10 OMIM SCTID

More info about FRAGILE X SYNDROME; FXS

Browse more diseases

High match CHROMOSOME 2q37 DELETION SYNDROME

Patients with chromosome 2q37 deletion syndrome show highly variable clinical manifestations likely resulting from different deletion sizes and deletions of different genes. Variable clinical features included brachydactyly type E (BDE), affecting the metacarpals and metatarsals (in about 50% of patients), short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features. However, many individuals with deletions do not show cognitive deficits (summary by Villavicencio-Lorini et al., 2013, Wheeler et al., 2014, Jean-Marcais et al., 2015).

CHROMOSOME 2q37 DELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome, brachydactyly-mental retardation syndrome;bdmr;deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: OMIM GARD SCTID MONDO NCIT MESH UMLS ORPHANET

More info about CHROMOSOME 2q37 DELETION SYNDROME

Browse more diseases

High match COACH SYNDROME

COACH syndrome is an autosomal recessive disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Other features, such as coloboma and renal cysts, may be variable. COACH syndrome is considered by some to be a subtype of Joubert syndrome (JBTS; see {213300}) with congenital hepatic fibrosis. Identification of liver disease in these patients is critical because some may develop complications such as portal hypertension with fatal variceal bleeding (Brancati et al., 2009; Doherty et al., 2010).

COACH SYNDROME Is also known as cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis, joubert syndrome with congenital hepatic fibrosis;joubert syndrome with hepatic defect is a very rare subtype of joubert syndrome and related disorders (jsrd, see this term) characterized by the neurological features of js associated with congenital hepatic fibrosis (chf).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO GARD UMLS MESH ORPHANET OMIM SCTID

More info about COACH SYNDROME

Browse more diseases

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

Symptoms // Phenotype % Cases
Intellectual disability 60%
Short stature 60%
Autosomal dominant inheritance 50%
Generalized hypotonia 50%
Low-set ears 50%
Try adding any of this symptoms in our app

Other less frequent symptoms

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

50% Depressed nasal bridge 50% Macrocephaly 50% Prominent forehead 50% Seizures 50% Hypertelorism 50% Brachydactyly 40% Anteverted nares 40% Autosomal recessive inheritance 40% Strabismus 40% Short neck 40% Global developmental delay 40% Growth delay 40% Midface retrusion 30% Ventricular septal defect 30% Highly arched eyebrow 30% Autism 30% Intellectual disability, moderate 30% Wide mouth 30% Muscular hypotonia 30% Short nose 30% Malar flattening 30% Short foot 30% Short ribs 30% Atrial septal defect 30% Hearing impairment 30% Narrow chest 30% Platyspondyly 30% Downslanted palpebral fissures 30% Clinodactyly of the 5th finger 30% Ataxia 30% Nystagmus 30% Brachycephaly 20% Everted lower lip vermilion 20% Coarse facial features 20% Pectus excavatum 20% High forehead 20% Mandibular prognathia 20% Clinodactyly 20% Upslanted palpebral fissure 20% Oral cleft 20% Proptosis 20% Infantile onset 20% Abnormal facial shape 20% Umbilical hernia 20% Finger syndactyly 20% Broad palm 20% Prominent nasal bridge 20% Thin vermilion border 20% Omphalocele 20% Short toe 20% Cognitive impairment 20% Pes planus 20% Feeding difficulties in infancy 20% Scoliosis 20% Pica 20% Attention deficit hyperactivity disorder 20% Long face 20% Feeding difficulties 20% Thick vermilion border 20% Self-injurious behavior 20% Abnormality of neuronal migration 20% Small hand 20% Short palm 20% Intellectual disability, severe 20% Broad ribs 20% Coloboma 20% Multicystic kidney dysplasia 20% Abnormality of the metaphysis 20% Micrognathia 20% Supernumerary nipple 20% Patent foramen ovale 20% Obesity 20% Arrhythmia 20% Dilatation 20% Aggressive behavior 20% Plagiocephaly 20% Narrow forehead 20% Broad nasal tip 20% Macrotia 20% Long philtrum 20% Short long bone 20% Talipes equinovarus 20% Toe syndactyly 20% Fibular hypoplasia 20% Cataract 20% Joint hyperflexibility 20% Short metacarpal 20% Short metatarsal 20% Wide nasal bridge 20% Respiratory insufficiency 20% Muscular hypotonia of the trunk 20% Micromelia 20% Wide nose 20% Limb undergrowth 20% Wide anterior fontanel 20% Hyperactivity 20% Ptosis 20% Cryptorchidism 20% Bell-shaped thorax 20% Hypoplastic ischia 10% Ascending tubular aorta aneurysm 10% Periventricular gray matter heterotopia 10% Irregular dentition 10% Mood swings 10% Hyperextensibility of the finger joints 10% Abnormality of abdomen morphology 10% Abnormality of the liver 10% Optic nerve coloboma 10% Abnormal head movements 10% Large forehead 10% Enuresis 10% Hyperkinesis 10% Macroorchidism 10% Poor eye contact 10% Shyness 10% Finger joint hypermobility 10% Oppositional defiant disorder 10% Sensorineural hearing impairment 10% Conductive hearing impairment 10% Congenital onset 10% Hyporeflexia 10% Behavioral abnormality 10% Abnormality of the skeletal system 10% Pain 10% Microcephaly 10% Retinal dystrophy 10% Congenital macroorchidism 10% Folate-dependent fragile site at Xq28 10% Severe temper tantrums 10% Encopresis 10% Macroorchidism, postpubertal 10% Increased size of the mandible 10% Polyphagia 10% Large hands 10% Esophageal varix 10% Aplasia/Hypoplasia of the cerebellar vermis 10% Neurological speech impairment 10% Abnormality of the hypothalamus-pituitary axis 10% Congenital hepatic fibrosis 10% Neoplasm of the liver 10% Cholestatic liver disease 10% Abnormal pattern of respiration 10% Anxiety 10% Autistic behavior 10% Chronic hepatic failure 10% Multiple small medullary renal cysts 10% Neonatal hypotonia 10% Protruding ear 10% Joint laxity 10% Iris coloboma 10% Facial asymmetry 10% Cirrhosis 10% Chronic otitis media 10% Hyperpigmentation of the skin 10% Blepharophimosis 10% Premature ovarian insufficiency 10% Relative macrocephaly 10% Overgrowth 10% Narrow face 10% Heterotopia 10% Sinusitis 10% Joint hypermobility 10% X-linked dominant inheritance 10% Otitis media 10% Mitral valve prolapse 10% Spontaneous abortion 10% Postural instability 10% Abnormality of eye movement 10% Occipital encephalocele 10% Downturned corners of mouth 10% Deeply set eye 10% Splenomegaly 10% Abnormality of the kidney 10% Gait disturbance 10% Hepatic fibrosis 10% Aplasia/Hypoplasia of the corpus callosum 10% Oculomotor apraxia 10% Gastrointestinal hemorrhage 10% Hypertension 10% Tremor 10% Hyperreflexia 10% Hepatomegaly 10% Visual impairment 10% Spasticity 10% Chorioretinal coloboma 10% Aplasia/Hypoplasia of the cerebellum 10% Postaxial hand polydactyly 10% Cholestasis 10% Renal cyst 10% Agenesis of corpus callosum 10% Apraxia 10% Apnea 10% Abnormality of the nervous system 10% Polydactyly 10% Elevated hepatic transaminase 10% Cerebellar hypoplasia 10% Intestinal malrotation 10% Encephalocele 10% Heterogeneous 10% Cerebellar vermis hypoplasia 10% Inguinal hernia 10% Dystonia 10% Stage 5 chronic kidney disease 10% Renal insufficiency 10% Hydrocephalus 10% Broad columella 10% Chronic kidney disease 10% Abnormality of the eye 10% Nephropathy 10% Biparietal narrowing 10% Stereotypy 10% Bilateral single transverse palmar creases 10% Aortic valve stenosis 10% Sparse and thin eyebrow 10% Short phalanx of finger 10% Congenital diaphragmatic hernia 10% Pyloric stenosis 10% Scarring 10% Eczema 10% Wide intermamillary distance 10% Retinal coloboma 10% Underdeveloped nasal alae 10% Sleep disturbance 10% Laryngomalacia 10% Molar tooth sign on MRI 10% Portal hypertension 10% Nephronophthisis 10% Pain insensitivity 10% Abnormal aortic morphology 10% Subvalvular aortic stenosis 10% Broad face 10% Low hanging columella 10% Cephalocele 10% Overweight 10% Narrow palpebral fissure 10% Mild short stature 10% Tracheomalacia 10% Obsessive-compulsive behavior 10% Mania 10% Nephroblastoma 10% Somatic mutation 10% Short chin 10% Sparse scalp hair 10% Camptodactyly 10% Gastroesophageal reflux 10% Motor delay 10% Abnormal heart morphology 10% Retrognathia 10% Recurrent infections 10% Abnormality of cardiovascular system morphology 10% Dysarthria 10% Delayed speech and language development 10% Female pseudohermaphroditism 10% Bulbous nose 10% Advanced eruption of teeth 10% Dimple chin 10% Widow's peak 10% Abnormality of the helix 10% Shawl scrotum 10% Ectopic kidney 10% Preauricular pit 10% Synophrys 10% Hypermetropia 10% Thick eyebrow 10% High palate 10% Delayed eruption of teeth 10% Developmental regression 10% Skeletal dysplasia 10% Osteopenia 10% Blindness 10% Optic atrophy 10% Hypoplasia of eyelid 10% Triangular face 10% Horizontal eyebrow 10% Total anomalous pulmonary venous return 10% Thickened helices 10% Transposition of the great arteries 10% Open mouth 10% Macroglossia 10% Poor speech 10% Tetralogy of Fallot 10% Patent ductus arteriosus 10% Cerebral calcification 10% Short distal phalanx of finger 10% Multiple impacted teeth 10% Ectopic calcification 10% Upper limb asymmetry 10% Pseudohypoparathyroidism 10% Short clavicles 10% Hypoparathyroidism 10% Unilateral ulnar hypoplasia 10% Straight clavicles 10% Postaxial oligodactyly 10% Aplasia/Hypoplasia of the fibula 10% Aplasia/Hypoplasia of the ulna 10% Lower limb asymmetry 10% Short 5th finger 10% Bilateral talipes equinovarus 10% Hemangioma 10% Moderately short stature 10% Type E brachydactyly 10% Iliac crest serration 10% Wormian bones 10% Squared iliac bones 10% Severe platyspondyly 10% Spondylometaphyseal dysplasia 10% Metaphyseal cupping 10% Delayed epiphyseal ossification 10% Tachypnea 10% Deep philtrum 10% Cardiomegaly 10% Aplasia/Hypoplasia of the distal phalanx of the hallux 10% Large fontanelles 10% Pulmonary arterial hypertension 10% Small for gestational age 10% Microtia 10% Postnatal growth retardation 10% Delayed skeletal maturation 10% Congestive heart failure 10% Recurrent fractures 10% Increased bone mineral density 10% Oxycephaly 10% Thoracic hypoplasia 10% Hypoplastic fingernail 10% Protuberant abdomen 10% Hearing abnormality 10% Megalocornea 10% Stillbirth 10% Thin ribs 10% Hypoplastic toenails 10% Bifid tongue 10% Hydrops fetalis 10% Rhizomelia 10% Joint contracture of the hand 10% Abnormal form of the vertebral bodies 10% High myopia 10% Abnormality of the ribs 10% Pectus carinatum 10% Hypoplastic scapulae 10% Abnormal diaphysis morphology 10% Camptodactyly of finger 10% Widely patent sagittal suture 10% Absent speech 10% Cerebral cortical atrophy 10% Depressivity 10% Tics 10% Nevus 10% Widely patent coronal suture 10% Posterior vertebral hypoplasia 10% Long clavicles 10% Broad ischia 10% Dumbbell-shaped long bone 10% Posterior rib cupping 10% Thin clavicles 10% Broad long bones 10% Anterior rib cupping 10% Narrow greater sacrosciatic notches 10% Abnormality of the pinna 10% Severe short stature 10% Abnormality of dental enamel 10% Premature loss of teeth 10% Facial paralysis 10% Short sternum 10% Delayed closure of the anterior fontanelle 10% Craniofacial hyperostosis 10% Abnormal cranial nerve morphology 10% Obstructive sleep apnea 10% Irregular vertebral endplates 10% Broad femoral neck 10% Disproportionate short stature 10% Natal tooth 10% Aplasia/Hypoplasia of the skin 10% Increased susceptibility to fractures 10% Flared metaphysis 10% Dermal atrophy 10% Oligodontia 10% Diaphyseal thickening 10% Hypoplastic vertebral bodies 10% Narrow mouth 10% Sclerotic scapulae 10% Syndactyly 10% Myopia 10% Cleft palate 10% Progressive bowing of long bones 10% Increased intervertebral space 10% Abnormal metaphyseal trabeculation 10% Sclerosis of hand bone 10% Clavicular sclerosis 10% Narrow iliac wings 10% Short diaphyses 10% Absent paranasal sinuses 10% Parietal bossing 10% Abducens palsy 10% Rough bone trabeculation 10% Absent frontal sinuses 10% Sclerosis of skull base 10% Intrahepatic biliary atresia



Need help with a diagnosis?

Use our search engine for rare diseases


Start searching now