Brachydactyly, and Sloping forehead

Diseases related with Brachydactyly and Sloping forehead

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


Top matches:

Medium match JAWAD SYNDROME


Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.

JAWAD SYNDROME Is also known as microcephaly with mental retardation and digital anomalies|kelly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Cryptorchidism
  • Intellectual disability, severe
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JAWAD SYNDROME

Medium match CLEIDOCRANIAL DYSPLASIA


Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

Medium match MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME


Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.

MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME Is also known as mic-cap syndrome|microcephaly-cutaneous capillary malformation syndrome|mic-cm syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME

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Other less relevant matches:

Medium match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Medium match DUBOWITZ SYNDROME


Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

Medium match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II


'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II Is also known as majewski osteodysplastic primordial dwarfism type ii|osteodysplastic primordial dwarfism, type ii|mopd ii|mopd type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II

Medium match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III


Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Low match KEUTEL SYNDROME


Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

KEUTEL SYNDROME Is also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|pulmonic stenosis, brachytelephalangism, and calcification of cartilages

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEUTEL SYNDROME

Low match CHOROID PLEXUS CARCINOMA


Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.

CHOROID PLEXUS CARCINOMA Is also known as sgs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOROID PLEXUS CARCINOMA

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Intrauterine growth retardation

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Postnatal growth retardation Hypertelorism Depressed nasal bridge Hypoplasia of the corpus callosum Clinodactyly of the 5th finger Short distal phalanx of finger Anteverted nares Hypospadias Cleft palate Anemia Hydronephrosis Growth delay Scoliosis Abnormal facial shape Low-set ears Delayed myelination Abnormality of the skeletal system Cryptorchidism Atrial septal defect Dry skin Spasticity Abnormality of cardiovascular system morphology Failure to thrive Generalized hypotonia Attention deficit hyperactivity disorder Asthma Delayed skeletal maturation Abnormal heart morphology Cerebral atrophy Ventricular septal defect Long clavicles Wide nasal bridge Epicanthus Neoplasm Headache Ptosis Abnormality of skin pigmentation Small for gestational age Short thumb Recurrent respiratory infections Hydroureter Single transverse palmar crease Ventriculomegaly Toe syndactyly Aggressive behavior Retrognathia Abnormality of the dentition Midface retrusion Osteoporosis Prominent nose Cataract Skeletal dysplasia Hypothyroidism Oligohydramnios Malar flattening Severe short stature Sparse scalp hair Fine hair Dilatation

Rare Symptoms - Less than 30% cases


Fever Short neck High forehead Hypertonia Carcinoma Cognitive impairment Hyperreflexia Vomiting Osteopenia High palate Irritability Micromelia Cafe-au-lait spot Abnormality of the metaphysis Sacral dimple Bicornuate uterus Limb undergrowth Submucous cleft hard palate Underdeveloped nasal alae Microtia Hypopigmented skin patches Abnormality of female external genitalia Telangiectasia Sensorineural hearing impairment Downslanted palpebral fissures Intellectual disability, mild Abnormality of the genital system Patent ductus arteriosus Lymphoma Joint hyperflexibility Abnormality of the liver Multiple cafe-au-lait spots Cerebral calcification Eczema Coarctation of aorta Spontaneous abortion Shortening of all distal phalanges of the fingers Short 1st metacarpal Severe intrauterine growth retardation Disproportionate short stature Nasal speech Tibial bowing Nystagmus Strabismus Wide anterior fontanel Respiratory insufficiency Hydrocephalus Thrombocytopenia Alopecia Cortical gyral simplification Upslanted palpebral fissure Abnormality of the urinary system Delayed eruption of teeth Abnormality of the thumb Abnormality of epiphysis morphology Hypotrichosis Narrow chest Abnormality of the metacarpal bones Sinusitis Wormian bones Dolichocephaly Hip dislocation Hearing abnormality Frontal bossing Optic atrophy Short nose Abnormality of the kidney Arachnoid cyst Tetralogy of Fallot Intellectual disability, severe Hypogonadism Syndactyly Respiratory failure Polydactyly Wide nose Spina bifida occulta Diabetes insipidus Coxa vara Hypoplastic scapulae Proptosis Hypsarrhythmia Micropenis Muscular hypotonia of the trunk Colpocephaly Premature fusion of phalangeal epiphyses 11 pairs of ribs Arterial calcification Agenesis of cerebellar vermis Soft, doughy skin Cartilaginous ossification of nose Costal cartilage calcification Calcification of cartilage Pulmonary artery hypoplasia Tracheal atresia Calcification of the auricular cartilage Profound global developmental delay Cartilaginous ossification of larynx Long foot Talipes equinovarus Macroglossia Broad palm Osteomalacia Short humerus Hip contracture Epileptic spasms Thickened nuchal skin fold Hypertrichosis Postaxial hand polydactyly Sensory impairment Delayed epiphyseal ossification Abnormality of finger Abnormal cortical gyration Neurodegeneration Flat acetabular roof Hepatic steatosis Confusion Paralysis Short femur Camptodactyly Coarse facial features Hypoplastic ilia Prominent forehead Thin eyebrow Hypertension Obstructive lung disease Bifid femur Growth abnormality Loss of eyelashes Progressive hearing impairment Abnormality of the distal phalanx of finger Cutis laxa Abnormality of the pubic bone Leukodystrophy Short phalanx of finger Shoulder flexion contracture Recurrent otitis media Abnormality of the tragus Pulmonary arterial hypertension Dermal atrophy Bowed humerus Memory impairment Enlarged metaphyses Otitis media Long face Infertility Pulmonic stenosis Respiratory tract infection Absent knee epiphyses Cleft vertebral arch Bifid first metacarpal Deep philtrum Abnormality of calcium-phosphate metabolism Abnormality of the upper urinary tract Recurrent bronchitis Abdominal aortic aneurysm Broad distal phalanx of finger Tethered cord Papillary thyroid carcinoma Macrotia Short nail Central hypothyroidism Peripheral pulmonary artery stenosis Thyroid carcinoma Abnormally ossified vertebrae Chronic obstructive pulmonary disease Short hallux Large iliac wings Chronic sinusitis Pulmonary artery stenosis Abnormality of the intervertebral disk Irregular vertebral endplates Epiphyseal stippling Recurrent sinusitis Mixed hearing impairment Hypoplasia of the frontal lobes Emphysema Small anterior fontanelle Aortic aneurysm Aplasia/hypoplasia of the femur Aplastic clavicle Increased density of long bones Progressive neurologic deterioration Myeloid leukemia Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Absent thumb Abnormality of femur morphology Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of vision Reduced bone mineral density Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Leukopenia Abnormality of the testis Acute monocytic leukemia Horseshoe kidney Clubbing of toes Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Partial duplication of thumb phalanx Abnormality of the hypothalamus-pituitary axis Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Type I diabetes mellitus Bone marrow hypocellularity Scrotal hypoplasia Abnormality of the nasopharynx Partial agenesis of the corpus callosum Aplasia/Hypoplasia of the pubic bone Metopic suture patent to nasal root Primitive neuroectodermal tumor Hypoplasia of first ribs Sacrococcygeal teratoma Facial hemangioma Thickened cortex of long bones Hypoplastic labia minora Ureteral stenosis Embryonal neoplasm Widely patent fontanelles and sutures Hepatoblastoma Hyperconvex nail Teratoma Ataxia Sclerosis of skull base Wide cranial sutures Alacrima Short sternum Broad ribs Hypoplastic labia majora Choanal stenosis Vocal cord paralysis Shallow orbits Hypoplastic nipples Infantile spasms Opisthotonus Tricuspid regurgitation Radioulnar synostosis Wide distal femoral metaphysis Visual impairment Hypergonadotropic hypogonadism Anal atresia Spina bifida Abnormal vertebral morphology Insulin resistance Recurrent urinary tract infections Aganglionic megacolon Choanal atresia Short palpebral fissure Pancytopenia Renal agenesis Hypopigmentation of the skin Neutropenia Bruising susceptibility Vertigo Astigmatism Facial asymmetry Hepatomegaly Weight loss Fatigue Respiratory distress Congestive heart failure Renal insufficiency Microphthalmia Diabetes mellitus Umbilical hernia Abnormality of the foot Pes planus Hypertrophic cardiomyopathy Abnormality of the eye Abnormal cardiac septum morphology Leukemia Finger syndactyly Prolonged neonatal jaundice Projectile vomiting Long nose Hyperactivity Iron deficiency anemia Scleroderma Hypoplastic left heart Malnutrition Obsessive-compulsive behavior Psychosis Nausea Abnormality of the cerebral white matter Pruritus Skin rash Anxiety Autism Depressivity Self-mutilation Behavioral abnormality Tremor Motor delay Abnormal hair whorl Hemiclonic seizures Capillary malformation Right ventricular hypertrophy Short 5th finger Central hypotonia Long palpebral fissure Patent foramen ovale Spastic tetraparesis Poor coordination Blue irides Progressive microcephaly Recurrent infections Broad thumb Cutaneous photosensitivity Short foot Small hand Malabsorption Blepharophimosis Wide mouth Craniosynostosis Protruding ear Low-set, posteriorly rotated ears Telecanthus Pectus excavatum Myopia Fair hair Maternal hyperphenylalaninemia Reduced phenylalanine hydroxylase activity Phenylpyruvic acidemia Increased level of hippuric acid in urine Microphakia Prenatal maternal abnormality Hyperphenylalaninemia Body odor Folate deficiency Mood changes Abnormal posturing Generalized hypopigmentation Short toe Tetraparesis Narrow face Carious teeth Open bite Chronic otitis media Abnormality of pelvic girdle bone morphology Sleep apnea Abnormality of dental enamel Hemivertebrae Large fontanelles Abnormality of the ribs Recurrent fractures Tapered finger High, narrow palate Genu valgum Broad forehead Short clavicles Mandibular prognathia Brachycephaly Macrocephaly Absent fourth finger distal interphalangeal crease Single interphalangeal crease of fifth finger 4-5 toe syndactyly Congenital microcephaly Short middle phalanx of the 5th finger Thoracic scoliosis Abnormality of digit Anonychia Hallux valgus Increased number of teeth Sprengel anomaly Small nail Neck muscle hypoplasia Ventricular hypertrophy Vesicoureteral reflux Hypoplasia of the maxilla Downturned corners of mouth Poor speech Severe global developmental delay Intellectual disability, moderate Thin upper lip vermilion Myoclonus Clinodactyly Delayed speech and language development Feeding difficulties Cervical segmentation defect Glossoptosis Short face Shoulder muscle hypoplasia Hypoplastic inferior ilia Rib segmentation abnormalities Cervical C2/C3 vertebral fusion Abnormal sacrum morphology Dimple chin Dystrophic fingernails Dystrophic toenail Decreased skull ossification Down-sloping shoulders Hypoplasia of the zygomatic bone Chronic diarrhea Low anterior hairline Femoral bowing Agenesis of corpus callosum Polymicrogyria Platyspondyly Corneal opacity Sparse hair Abnormality of the pinna Apnea Abnormality of the nervous system Rigidity Dyspnea Hyperkeratosis Glaucoma Posteriorly rotated ears Cerebellar hypoplasia Short palm Flexion contracture Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines Rootless teeth Alveolar process hypoplasia Overtubulated long bones Generalized microdontia Straight clavicles Ivory epiphyses High iliac wings Proximal femoral epiphysiolysis Moyamoya phenomenon Thin clavicles Bulbous nose Thick vermilion border Pseudoepiphyses of the metacarpals Bilateral single transverse palmar creases Prominent occiput Multiple joint contractures Large hands Rickets Elbow dislocation Preaxial polydactyly Lissencephaly Sparse eyelashes Absence seizures Short chin Knee flexion contracture Muscle stiffness Elbow flexion contracture Renal cyst Sparse and thin eyebrow Bowing of the long bones Heterotopia Pachygyria Abnormal form of the vertebral bodies Cerebellar vermis hypoplasia Renal hypoplasia Status epilepticus Specific learning disability Short metacarpal Premature birth Bifid uvula Distal symphalangism Forearm undergrowth Abnormality of the fingernails Rectal prolapse Type II diabetes mellitus Microdontia Hip dysplasia Convex nasal ridge Full cheeks Hypermetropia Prominent nasal bridge Stroke Joint laxity Obesity Abnormality of thumb phalanx Abnormality of neutrophils Sparse lateral eyebrow Hemiparesis Abnormality of the antihelix Hypoparathyroidism Acute lymphoblastic leukemia Anal stenosis Underdeveloped supraorbital ridges Aplasia/Hypoplasia of the thumb Delayed cranial suture closure Metatarsus adductus Cutis marmorata Hypoplastic toenails Aplasia/Hypoplasia of the corpus callosum Sandal gap Epidermal acanthosis Hypoplasia of dental enamel Pseudoepiphyses Proportionate short stature Large sella turcica Narrow pelvis bone Ulnar bowing Arterial stenosis Aplasia/Hypoplasia of the earlobes Abnormality of the cerebral vasculature Tracheal stenosis Hypoplastic iliac wing Increased intraocular pressure Radial bowing Severe postnatal growth retardation Dilatation of the cerebral artery Slender long bone Coxa valga Limited elbow extension Truncal obesity Aplasia/Hypoplasia of the eyebrow High pitched voice Flared metaphysis Short middle phalanx of finger Abnormality of dental morphology Cone-shaped epiphysis Precocious puberty Reduced number of teeth Laryngomalacia Acanthosis nigricans Narrow palpebral fissure Abnormality of the preputium



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