Frontal bossing, and Prominent forehead

Diseases related with Frontal bossing and Prominent forehead

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


Top matches:

High match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE


Acromesomelic dysplasia, Maroteaux type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms).

Related symptoms:

  • Scoliosis
  • Depressed nasal bridge
  • Brachydactyly
  • Frontal bossing
  • Kyphosis


SOURCES: ORPHANET MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE

High match MENTAL RETARDATION, X-LINKED 93; MRX93


MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

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

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Other less relevant matches:

High match FG SYNDROME 2; FGS2


Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

High match AICA-RIBOSIDURIA


AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.

AICA-RIBOSIDURIA Is also known as aica-ribosuria due to atic deficiency|5-amino-4-imidazole carboxamide ribosiduria|atic deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AICA-RIBOSIDURIA

High match MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14


Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

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

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 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8


Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

High match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM


The Maroteaux type of mesomelic sysplasia is an autosomal recessive disorder characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by Faivre et al., 2000).

ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM Is also known as st. helena dysplasia

Related symptoms:

  • Brachydactyly
  • Frontal bossing
  • Short nose
  • Severe short stature
  • Prominent forehead


SOURCES: OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM

Top 5 symptoms//phenotypes associated to Frontal bossing and Prominent forehead

Symptoms // Phenotype % cases
Macrocephaly Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Triangular face Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Kyphosis Delayed speech and language development Seizures

Rare Symptoms - Less than 30% cases


Relative macrocephaly Short stature Atrial septal defect Hepatosplenomegaly Failure to thrive Scoliosis Low-set ears Optic atrophy Long face Prominent nasal bridge High palate Mandibular prognathia Growth abnormality Feeding difficulties Finger clinodactyly Global developmental delay Intellectual disability, severe Retrognathia Protruding ear Intellectual disability, mild Ovoid vertebral bodies Pes planus Disproportionate short stature Acromesomelia Muscular hypotonia Cryptorchidism Beaking of vertebral bodies Pectus excavatum Small hand Aggressive behavior Hepatomegaly Craniosynostosis Anemia Strabismus Penoscrotal hypospadias Unilateral cryptorchidism Broad nasal tip Melanocytic nevus Pterygium Decreased body weight Ambiguous genitalia Stereotypy Thoracolumbar interpediculate narrowness Lower thoracic kyphosis Broad finger Recurrent pneumonia Broad metatarsal Short nail Delayed skeletal maturation Patent ductus arteriosus Hypospadias Motor delay Broad phalanx Broad metacarpals Flexion contracture Scaphocephaly Microretrognathia Feeding difficulties in infancy Hydrocephalus Gait disturbance Skeletal dysplasia Thoracolumbar kyphosis Radial bowing Cone-shaped epiphyses of the phalanges of the hand Limited elbow extension Flared metaphysis Short metatarsal Hypoplasia of the radius Short toe Short phalanx of finger Lumbar hyperlordosis Short metacarpal Falls Joint laxity Severe short stature Hypoplasia of the corpus callosum Short nose Increased density of long bones Uncontrolled eye movements Osteopetrosis Short femoral neck Leukopenia Short chin Brain atrophy Irritability Facial palsy Thrombocytopenia Long hallux Splenomegaly Vomiting Increased head circumference Narrow chest Anxiety Midface retrusion Abnormal facial shape Hypertelorism Unilateral ulnar hypoplasia Postaxial oligodactyly Aplasia/Hypoplasia of the fibula Aplasia/Hypoplasia of the ulna Lower limb asymmetry Short 5th finger Fibular hypoplasia Bilateral talipes equinovarus Hemangioma Round face Short foot Toe syndactyly Malar flattening Constipation Talipes equinovarus Growth delay Cupped ear Pointed chin Tall stature Macrotia Vertebral wedging Sprengel anomaly Bowing of the long bones Abnormal form of the vertebral bodies Joint hyperflexibility Dolichocephaly Joint stiffness Hyperlordosis Abnormal heart morphology Hyperactivity Pneumonia Fused labia minora Clinodactyly of the 5th finger Clinodactyly Downslanted palpebral fissures Wide nasal bridge Slender build Long foot Abnormality of the musculature Abnormality of the sternum Nasal speech Narrow face Hypoplasia of the maxilla Arachnodactyly Depressed nasal bridge Pectus carinatum Congenital blindness Neonatal hypotonia Clitoral hypertrophy Intellectual disability, profound Abnormality of the skin Wide mouth Thin upper lip vermilion Brachycephaly Abnormality of metabolism/homeostasis Blindness Anteverted nares Underdeveloped superior crus of antihelix Frontal upsweep of hair Large forehead Anteriorly placed anus Abnormality of the pinna Redundant skin on fingers



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