Brachydactyly, and Thick lower lip vermilion

Diseases related with Brachydactyly and Thick lower lip vermilion

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


Top matches:

Medium match ACROMICRIC DYSPLASIA


Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.

Related symptoms:

  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Brachydactyly
  • Anteverted nares


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACROMICRIC DYSPLASIA

Medium match COFFIN-SIRIS SYNDROME 2; CSS2


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.

COFFIN-SIRIS SYNDROME 2; CSS2 Is also known as mrd14|mental retardation, autosomal dominant 14

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 2; CSS2

Medium match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

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Other less relevant matches:

Medium match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Medium match 3M SYNDROME


3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

3M SYNDROME Is also known as le merrer syndrome|3-m syndrome|3m syndrome|gloomy face syndrome|yakut short stature syndrome|dolichospondylic dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3M SYNDROME

Medium match INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME


Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Medium match COFFIN-SIRIS SYNDROME 6; CSS6


Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Medium match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE


X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Medium match ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX


ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

Top 5 symptoms//phenotypes associated to Brachydactyly and Thick lower lip vermilion

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Abnormal facial shape Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Thick lower lip vermilion. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Anteverted nares

Uncommon Symptoms - Between 30% and 50% cases


Coarse facial features

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Thick vermilion border

Common Symptoms - More than 50% cases


Long philtrum

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge Cryptorchidism Global developmental delay Clinodactyly of the 5th finger Everted lower lip vermilion Downslanted palpebral fissures Microcephaly Hypertelorism Feeding difficulties Constipation Epicanthus Wide mouth Macroglossia Intrauterine growth retardation Talipes equinovarus Scoliosis Muscular hypotonia Pes planus Midface retrusion Sparse scalp hair Sparse hair Narrow palpebral fissure Absent speech Intellectual disability, severe Short nose Delayed skeletal maturation Short foot Highly arched eyebrow Long eyelashes Micrognathia Aggressive behavior Autism Gastroesophageal reflux Small hand Hydronephrosis Telecanthus Bulbous nose High palate Macrocephaly Short palm Dilatation Hernia Joint hypermobility Frontal bossing Thick eyebrow Joint laxity Intellectual disability, moderate Clinodactyly Hypoplasia of the corpus callosum Postnatal growth retardation Sensorineural hearing impairment Low-set ears Hypospadias Motor delay Delayed speech and language development High forehead Agenesis of corpus callosum Severe short stature Joint hyperflexibility

Rare Symptoms - Less than 30% cases


Relative macrocephaly Ambiguous genitalia Flat face Optic atrophy Myopia Joint dislocation High, narrow palate Anemia Flexion contracture Hypertonia Broad nasal tip Tapered finger Behavioral abnormality Renal agenesis Prominent nose Obesity Hypoplasia of penis Delayed eruption of teeth Small for gestational age Hip dislocation Pectus excavatum Dolichocephaly Malar flattening Kyphosis Failure to thrive Short neck Micropenis Sandal gap Abnormality of the skeletal system Triangular face Aganglionic megacolon U-Shaped upper lip vermilion Abnormal hemoglobin Profound global developmental delay Volvulus Male pseudohermaphroditism Dysphasia Decreased testicular size Mandibular prognathia Blepharophimosis Tented upper lip vermilion Synophrys Recurrent urinary tract infections Broad-based gait Abnormal hair pattern Eclabion Hyperactivity Deep philtrum Umbilical hernia Cone-shaped epiphysis Retrognathia Hypogonadism Osteoporosis Alopecia Kyphoscoliosis Tics Prominent interphalangeal joints Abnormality of cardiovascular system morphology Posteriorly rotated ears Atrial septal defect Hearing impairment Ptosis Low anterior hairline Small nail Wide nose Poor speech Abnormality of the pinna Visual impairment Short long bone Single transverse palmar crease Short phalanx of finger Joint stiffness Drooling Short philtrum Gait ataxia Aortic aneurysm Skeletal dysplasia Abnormality of epiphysis morphology Protruding tongue Short metacarpal Ventriculomegaly Ventricular septal defect Spasticity Stereotypy Chorioretinal coloboma Neurogenic bladder Congenital nystagmus Bowing of the legs Finger clinodactyly Unilateral renal agenesis Plagiocephaly Wormian bones Abnormal palate morphology Dandy-Walker malformation Abnormality of the hand Genu varum Aplasia/Hypoplasia of the corpus callosum Short middle phalanx of finger Arachnoid cyst Aortic regurgitation Convex nasal ridge Iris coloboma Facial asymmetry Microcornea Corneal opacity Coloboma Mental deterioration Abnormal heart morphology Patent ductus arteriosus Esotropia Microphthalmia Intellectual disability, mild Congestive heart failure Colpocephaly Cataract Short chin Progressive visual loss Nystagmus Testicular torsion Bilateral sensorineural hearing impairment Diaphragmatic eventration Periventricular leukomalacia Intellectual disability, profound Dental crowding Large forehead High anterior hairline Long face Infantile spasms Short toe Hypoplasia of teeth Open bite Short upper lip Cerebral atrophy Abnormality of the genital system Dental malocclusion Microtia Irritability Abdominal pain Pneumonia Abnormality of metabolism/homeostasis Vomiting Coxa valga Dysphagia Wide nasal bridge Pain Strabismus Abnormality of toe Moderately short stature Mood swings Aspiration Hemivertebrae Abnormality of earlobe Perimembranous ventricular septal defect Hemoglobin H Endometriosis Reduced alpha/beta synthesis ratio Widely-spaced maxillary central incisors Triangular mouth Absent frontal sinuses Ileus Hypochromic microcytic anemia Infantile muscular hypotonia Decreased serum testosterone level Chronic constipation Facial hypotonia Shawl scrotum Microcytic anemia Hydroureter Spastic diplegia Radial deviation of finger Small earlobe Abdominal obesity Lens luxation Inguinal hernia Delayed puberty Toe syndactyly Neurological speech impairment Camptodactyly of finger EEG abnormality Hyperhidrosis Pes cavus Immunodeficiency Memory impairment Gait disturbance Tremor Skeletal muscle atrophy Posterior staphyloma Short 2nd toe Scleral staphyloma Lop ear Polymicrogyria Interphalangeal joint contracture of finger Panhypopituitarism Abnormality of the musculature Distal lower limb amyotrophy Down-sloping shoulders Scaphocephaly Restlessness Striae distensae Biparietal narrowing Cerebellar vermis atrophy Truncal obesity Intention tremor Cortical gyral simplification Cortical dysplasia Large hands Cubitus valgus Cachexia Acanthosis nigricans Gynecomastia Short thumb Hip dysplasia Horizontal ribs Short distal phalanx of finger Cerebral cortical atrophy High pitched voice Prolonged bleeding time Abnormality of the sternum Palpebral edema Abnormality of the vasculature Generalized osteoporosis Urethral stenosis Irregular dentition Abnormal lip morphology Upper eyelid edema Infra-orbital fold Blindness Abnormality of the dentition Depressivity Abnormality of the kidney Increased susceptibility to fractures Abnormality of fontanelles Broad forehead Protruding ear Hyperlordosis Hydrocephalus Respiratory distress Abnormality of the male genitalia Self-injurious behavior Feeding difficulties in infancy Encephalitis Abnormality of the face Depressed nasal ridge Abnormality of movement Nausea and vomiting Spastic paraplegia Premature ovarian insufficiency Redundant skin Confusion Ovoid vertebral bodies Hypertrichosis Recurrent infections Internal notch of the femoral head Fifth metacarpal with ulnar notch Constrictive median neuropathy Abnormality of femur morphology Abnormal eyebrow morphology Shortening of all distal phalanges of the fingers Decreased nerve conduction velocity Hoarse voice Thickened skin Round face Respiratory tract infection Narrow mouth Abnormal corpus callosum morphology Aplasia/Hypoplasia of the distal phalanges of the hand Hyperextensible skin High myopia Cutis laxa Hypergonadotropic hypogonadism Sparse and thin eyebrow Gingival overgrowth Bronchiectasis Decreased body weight Narrow forehead Absent fifth toenail Overgrowth Hirsutism Bruising susceptibility Ichthyosis Cognitive impairment Absent fifth fingernail Micromelia Abnormality of the metaphysis Attention deficit hyperactivity disorder Enlarged joints Accelerated skeletal maturation Widely spaced teeth Mutism Abnormality of the metacarpal bones Short metatarsal Overfolded helix Absent eyebrow Aphasia Narrow nasal bridge Epileptic spasms Abnormality of finger Echolalia Abnormality of the testis Broad philtrum Broad columella Short palpebral fissure Prominent proximal interphalangeal joints Low-set, posteriorly rotated ears Anxiety Conductive hearing impairment Thin upper lip vermilion Prominent forehead Cleft palate Unilateral narrow palpebral fissure Wide nasal base Prominent eyelashes Curly eyelashes Clubbing of toes Thick nasal alae Excessive wrinkled skin Broad distal phalanx of finger Absence seizures Status epilepticus Narrow face Rocker bottom foot Disproportionate short stature Slender long bone Decreased fertility Short thorax Mild short stature Hypoplasia of the ulna Neonatal respiratory distress Abnormality of the elbow Spina bifida occulta Scapular winging Abnormality of dental enamel Congenital hip dislocation Pointed chin Short ribs Thin ribs Short 5th finger Eczema Autistic behavior Specific learning disability Wide intermamillary distance Full cheeks Thin vermilion border Smooth philtrum Hypotrichosis Deeply set eye Hypoplastic pelvis Brachycephaly Increased vertebral height Hypoplastic pubic bone Hypoplastic ischia Enlarged thorax Abnormality of the cerebral vasculature Hypoganglionosis



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