Frontal bossing, and Retrognathia

Diseases related with Frontal bossing and Retrognathia

In the following list you will find some of the most common rare diseases related to Frontal bossing and Retrognathia that can help you solving undiagnosed cases.


Top matches:

High match HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS


Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Feeding difficulties
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS

High match COLE-CARPENTER SYNDROME 2; CLCRP2


Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

High match MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME


Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

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Other less relevant matches:

High match GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

High match MECKEL SYNDROME, TYPE 10; MKS10


Related symptoms:

  • Seizures
  • Hearing impairment
  • Cleft palate
  • Ptosis
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 10; MKS10

High match FAMILIAL LAMBDOID SYNOSTOSIS


Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Spasticity
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL LAMBDOID SYNOSTOSIS

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

High match GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF


GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

High match SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME


SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

High match MICROPHTHALMIA WITH LIMB ANOMALIES; MLA


MICROPHTHALMIA WITH LIMB ANOMALIES; MLA Is also known as waardenburg anophthalmia syndrome|anophthalmia-syndactyly|ophthalmoacromelic syndrome|oas

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Cleft palate
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

Top 5 symptoms//phenotypes associated to Frontal bossing and Retrognathia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures High palate Prominent forehead Short stature Delayed speech and language development Low-set ears Craniosynostosis Short palpebral fissure Patent ductus arteriosus Epicanthus Wide nasal bridge Anteverted nares Seizures Microretrognathia Triangular face Growth delay Depressed nasal bridge Feeding difficulties Deeply set eye Hypertelorism Ventriculomegaly Motor delay

Rare Symptoms - Less than 30% cases


Postnatal growth retardation Blepharophimosis Cryptorchidism Hypospadias Small hand Flat occiput Optic nerve hypoplasia Deep philtrum Delayed ability to walk Ptosis Cleft palate Finger clinodactyly Polydactyly Abnormality of the pinna Telecanthus Renal cyst Encephalocele Heterotopia Malar flattening Short nose Infra-orbital crease Microcephaly Respiratory insufficiency Broad nasal tip Midface retrusion Proptosis Talipes equinovarus Lambdoidal craniosynostosis Microphthalmia Hypoplasia of the corpus callosum Corpus callosum atrophy Neonatal hypotonia Remnants of the hyaloid vascular system Mitral valve prolapse Mitral stenosis Abnormal facial shape Smooth philtrum Abnormal heart morphology Agyria Agenesis of corpus callosum Upslanted palpebral fissure Coarse facial features Low hanging columella Pes planus Hydronephrosis Hypermetropia Talipes Peters anomaly Inverted nipples Growth hormone deficiency Hypoplastic left heart Poor speech Type II lissencephaly Gastrointestinal dysmotility Narrow palate Wide mouth Pointed chin Renal dysplasia Retinal dysplasia Coarctation of aorta Astigmatism Broad columella Anophthalmia Single transverse palmar crease Postaxial hand polydactyly Abnormality of the cardiovascular system Split hand Abnormal vertebral morphology Abnormality of the hair Horseshoe kidney Hemivertebrae Sandal gap Tibial bowing Toe syndactyly Oligodactyly Fibular hypoplasia Postaxial foot polydactyly Short femur Abnormal renal morphology Hand oligodactyly Flared nostrils Foot oligodactyly Metacarpal synostosis Camptodactyly of 2nd-5th fingers Cleft upper lip Hip dislocation Oval face Weak cry Narrow philtrum Strabismus Brachydactyly Intrauterine growth retardation Abnormality of the skeletal system Short neck Long philtrum Obesity Severe global developmental delay Thin vermilion border Cleft lip Short foot Delayed myelination Short metacarpal Laryngomalacia Short metatarsal Underdeveloped supraorbital ridges Pseudohypoparathyroidism Frontal hirsutism Syndactyly Posteriorly rotated ears Gonadal dysgenesis Diminished ability to concentrate Partial agenesis of the corpus callosum Delayed skeletal maturation Mandibular prognathia Hepatosplenomegaly Anxiety Aggressive behavior Stereotypy Recurrent pneumonia Scaphocephaly Flexion contracture Feeding difficulties in infancy Clinodactyly of the 5th finger Ambiguous genitalia Decreased body weight Relative macrocephaly Pterygium Melanocytic nevus Unilateral cryptorchidism Penoscrotal hypospadias Hearing impairment Pneumonia Clinodactyly Postaxial polydactyly Oligohydramnios Cerebellar atrophy Gait ataxia Inability to walk Kyphosis Pectus excavatum Osteopenia Platyspondyly Recurrent fractures Blue sclerae Fractures of the long bones Wormian bones Reduced bone mineral density High pitched voice Thin ribs Turricephaly Coronal craniosynostosis Decreased skull ossification Narrow iliac wings Micropenis Exotropia Hypoplasia of the brainstem Polymicrogyria Cataract Areflexia Elevated serum creatine phosphokinase Cerebellar hypoplasia Glaucoma Facial palsy Microtia Muscular dystrophy Retinal detachment Pansynostosis Dandy-Walker malformation Decreased fetal movement Intellectual disability, profound Pachygyria Large fontanelles Lissencephaly Adducted thumb Congenital muscular dystrophy Posterior plagiocephaly Round ear Narrow palpebral fissure Facial asymmetry Sacral dimple Molar tooth sign on MRI Occipital encephalocele Anencephaly Muscular hypotonia Spasticity Hypertonia Protruding ear Downturned corners of mouth Prominent scalp veins Plagiocephaly Increased intracranial pressure External ear malformation Arnold-Chiari type I malformation Anterior plagiocephaly Stomatocytosis Dimple chin Craniofacial dysostosis Ectopic posterior pituitary Fused fourth and fifth metacarpals



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Hepatosplenomegaly, related diseases and genetic alterations

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