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/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME


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/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME Is also known as morava-mehes syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Brachydactyly
  • Frontal bossing
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME

High match BRACHYDACTYLY TYPE E


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 E Is also known as bde|brachydactyly, type e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE E

High match AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE


Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.

AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE Is also known as chondrodysplasia, megarbane-dagher-melki type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE

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Other less relevant matches:

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|craniofrontonasal dysplasia, teebi type|teebi syndrome|teebi hypertelorism syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERTELORISM, TEEBI TYPE

High match DYSOSTEOSCLEROSIS


Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DYSOSTEOSCLEROSIS

High match FIBROCHONDROGENESIS


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:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

High match FRAGILE X 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.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

High match JOUBERT SYNDROME WITH HEPATIC DEFECT


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).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

High match 2Q37 MICRODELETION SYNDROME


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.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Prominent forehead Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia 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


Brachydactyly Midface retrusion Hypertelorism Seizures Short neck Depressed nasal bridge Low-set ears Global developmental delay Anteverted nares Muscular hypotonia Growth delay Strabismus Clinodactyly of the 5th finger Short ribs Highly arched eyebrow Wide nose Narrow chest Platyspondyly Short foot Hearing impairment Dilatation Scoliosis Atrial septal defect Malar flattening Downslanted palpebral fissures Short nose Nystagmus

Rare Symptoms - Less than 30% cases


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



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