Brachydactyly, and Prominent forehead

Diseases related with Brachydactyly and Prominent forehead

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


Top matches:

Medium 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

Medium 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

Medium match REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA


Regressive spondylometaphyseal dysplasia is a rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.

REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as regressive spondylometaphyseal dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Brachydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Low-set ears
  • Brachydactyly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19

Medium 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

Medium match COFFIN-SIRIS SYNDROME 7; CSS7


Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

Medium match INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME


Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

Medium match METATROPIC DYSPLASIA


Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Medium match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Medium match SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME


Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME Is also known as soft syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Prominent forehead

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Global developmental delay Skeletal dysplasia Kyphosis Frontal bossing Relative macrocephaly Severe short stature High forehead Narrow chest Hyperlordosis Dolichocephaly Abnormality of the skeletal system Long philtrum Hearing impairment Ovoid vertebral bodies Disproportionate short stature Clinodactyly

Rare Symptoms - Less than 30% cases


Intellectual disability Prominent nose Respiratory insufficiency Low-set ears Respiratory failure Dental crowding Hypertelorism Micromelia Abnormal form of the vertebral bodies Short ribs Hypoplasia of the radius Spondylometaphyseal dysplasia Prominent occiput Anteverted nares Delayed eruption of teeth Short nose Short distal phalanx of finger Abnormality of the dentition Short metacarpal Carious teeth Hepatosplenomegaly Short toe Kyphoscoliosis Short metatarsal Thoracolumbar kyphosis Hydrocephalus Limited elbow extension Malar flattening Broad philtrum Coarse facial features Craniosynostosis Posteriorly rotated ears Talipes equinovarus Growth delay Small nail Acromesomelia Agenesis of permanent teeth Delayed speech and language development Joint stiffness Microcephaly Flexion contracture Ventricular septal defect Polydactyly Camptodactyly Platyspondyly Postaxial polydactyly Beaking of vertebral bodies Short finger Wide mouth Increased bone mineral density Abnormal vertebral morphology Recurrent fractures Abnormality of the face Abnormality of epiphysis morphology Postural instability Hypodontia Growth hormone deficiency Blue sclerae Hypoplasia of the maxilla Proptosis Abnormality of the skin Bone pain Apnea Halberd-shaped pelvis Brachycephaly Flared humeral metaphysis Rough bone trabeculation Thoracic kyphoscoliosis Long thorax Abnormality of the intervertebral disk Caudal appendage Pseudoarthrosis Severe platyspondyly Cervical instability Abnormal enchondral ossification Anisospondyly Flared femoral metaphysis Hypoplastic cervical vertebrae Short diaphyses Snail-like ilia Osteoporosis Relatively short spine Abnormal metaphyseal vascular invasion Long coccyx Dumbbell-shaped metaphyses Wormian bones Hyperplasia of the femoral trochanters Absent primary metaphyseal spongiosa Micrognathia Pain Cognitive impairment Anemia Hepatomegaly Splenomegaly Abnormality of the nail Abnormal pattern of respiration Narrow palate Nail dysplasia Developmental regression Postnatal growth retardation Sparse hair Microtia Small for gestational age Severe global developmental delay Long face Downturned corners of mouth Small hand Triangular face Broad nasal tip Waddling gait Type II diabetes mellitus Retrognathia Gingival overgrowth Pointed chin Azoospermia Widely spaced teeth Cone-shaped epiphysis High pitched voice Short femoral neck Low hanging columella Oligospermia Hypoplastic pelvis Breast hypoplasia Clitoral hypoplasia Frontal balding Deeply set eye Osteopenia Abnormality of the fingernails Ridged nail Osteolysis Sleep apnea Abnormality of pelvic girdle bone morphology Increased susceptibility to fractures Back pain Abnormality of the thorax Abnormality of dental morphology Osteomyelitis Abnormality of the vertebral column Abnormality of the clavicle Osteopetrosis Osteolytic defects of the phalanges of the hand Spondylolisthesis Small face Mandibular prognathia Low back pain Flared iliac wings Persistence of primary teeth Delayed eruption of permanent teeth Delayed eruption of primary teeth Absent frontal sinuses Snoring Spondylolysis Osteolytic defects of the distal phalanges of the hand Persistent open anterior fontanelle Abnormal pelvis bone ossification Abnormal facial shape Diabetes mellitus Enlarged joints Thick vermilion border Abnormal cortical bone morphology Short nail Horizontal ribs Pes planus Joint laxity Falls Lumbar hyperlordosis Short phalanx of finger Growth abnormality Flared metaphysis Cone-shaped epiphyses of the phalanges of the hand Radial bowing Long hallux Broad finger Hypoplastic ilia Broad metatarsal Broad phalanx Broad metacarpals Lower thoracic kyphosis Thoracolumbar interpediculate narrowness Redundant skin on fingers Strabismus Feeding difficulties Wide nasal bridge Downslanted palpebral fissures Abnormal heart morphology Constipation Lateral clavicle hook Thoracic dysplasia Feeding difficulties in infancy Lower limb asymmetry Joint hyperflexibility Bowing of the long bones Sprengel anomaly Vertebral wedging Atrial septal defect Toe syndactyly Short foot Round face Hemangioma Bilateral talipes equinovarus Fibular hypoplasia Short 5th finger Aplasia/Hypoplasia of the ulna Thoracic hypoplasia Aplasia/Hypoplasia of the fibula Postaxial oligodactyly Unilateral ulnar hypoplasia Rhizomelia Knee flexion contracture Mild short stature Hyposegmentation of neutrophil nuclei Respiratory distress Syndactyly Cleft lip Oral cleft Pulmonary hypoplasia Thin upper lip vermilion Abnormal cardiac septum morphology Fetal akinesia sequence Arthrogryposis multiplex congenita Neuronal loss in central nervous system Apraxia Short palpebral fissure Hypertrichosis Broad face Wide nasal base Cleft palate Cataract Clinodactyly of the 5th finger Low-set, posteriorly rotated ears Camptodactyly of finger Confusion Inability to walk Peripheral axonal neuropathy Limb undergrowth Abnormality of the ribs Interphalangeal joint contracture of finger Osteoarthritis Abnormality of the metaphysis Epiphyseal dysplasia Akinesia Multiple joint contractures Abnormal joint morphology Hypoplasia of the odontoid process Aplasia/Hypoplasia of the lungs Macroglossia Talipes Neurological speech impairment Ataxia Hypermetropia Thick eyebrow Wide nose Otitis media Microdontia Sparse scalp hair Recurrent otitis media Arnold-Chiari malformation Trigonocephaly Sagittal craniosynostosis Small pituitary gland Seizures Nystagmus Abnormality of the cerebral white matter Sensorineural hearing impairment Spasticity High palate Epicanthus Cerebellar atrophy Cerebral atrophy Absent speech Hyporeflexia Babinski sign Cerebellar hypoplasia Cerebral cortical atrophy Autistic behavior Hypoplastic sacrum



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Thrombocytopenia, related diseases and genetic alterations Fever and Gynecomastia, related diseases and genetic alterations Fever and Pruritus, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more