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 solving undiagnosed cases.


Top matches:

High match ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY

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.

ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY Is also known as ;morava-mehes syndrome

Related symptoms:

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


SOURCES: MONDO MESH UMLS OMIM ORPHANET SCTID

More info about ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY

High match BRACHYDACTYLY, TYPE E1; BDE1

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.

BRACHYDACTYLY, TYPE E1; BDE1 Is also known as brachydactyly, type e;bde;

Related symptoms:

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


SOURCES: MESH ORPHANET DOID OMIM UMLS MONDO

More info about BRACHYDACTYLY, TYPE E1; BDE1

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 MONDO ORPHANET OMIM UMLS

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

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High match HYPERTELORISM, TEEBI TYPE

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).

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia;brachycephalofrontonasal dysplasia; craniofrontonasal dysplasia, teebi type; teebi hypertelorism syndrome; teebi syndrome

Related symptoms:

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


SOURCES: OMIM SCTID ORPHANET GARD UMLS MONDO

More info about HYPERTELORISM, TEEBI TYPE

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: ORPHANET MONDO UMLS OMIM GARD

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

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:

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


SOURCES: UMLS MESH ORPHANET SCTID OMIM MONDO GARD

More info about DYSOSTEOSCLEROSIS

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 ;

Related symptoms:

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


SOURCES: MONDO OMIM ORPHANET UMLS

More info about FIBROCHONDROGENESIS 1; FBCG1

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;fraxa syndrome; fxs; frax syndrome; martin-bell syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM SCTID ICD10 UMLS

More info about FRAGILE X SYNDROME; FXS

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;albright hereditary osteodystrophy type 3; albright hereditary osteodystrophy-like syndrome; brachydactyly-intellectual disability syndrome; del(2)(q37); deletion 2q37; deletion 2q37-qter; monosomy 2q37-qter

Related symptoms:

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


SOURCES: OMIM UMLS GARD SCTID NCIT ORPHANET MONDO MESH

More info about CHROMOSOME 2q37 DELETION SYNDROME

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;coach syndrome; cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; gentile syndrome; js-h; joubert syndrome with congenital hepatic fibrosis

Related symptoms:

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


SOURCES: GARD ORPHANET MONDO SCTID OMIM MESH UMLS

More info about COACH SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Autosomal dominant inheritance Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge Macrocephaly Prominent forehead Seizures Hypertelorism Brachydactyly Anteverted nares Autosomal recessive inheritance Strabismus Short neck Global developmental delay Growth delay Midface retrusion Ventricular septal defect Narrow chest Autism Intellectual disability, moderate Wide mouth Muscular hypotonia Short nose Malar flattening Short foot Short ribs Atrial septal defect Hearing impairment Platyspondyly Highly arched eyebrow Clinodactyly of the 5th finger Downslanted palpebral fissures Brachycephaly Ataxia Nystagmus

Rare Symptoms - Less than 30% cases


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



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